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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA53708484
Gene: IL1A
HGNC
NCBI
Linked Data
dbSNP Id:
rs893069349
MyVariant Identifiers:
chr2:g.113535380A>G (hg19)
chr2:g.112777803A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.112777803A>G , CM000664.2:g.112777803A>G
GRCh38
NC_000002.11:g.113535380A>G , CM000664.1:g.113535380A>G
GRCh37
NC_000002.10:g.113251851A>G
NCBI36
NG_008850.1:g.12592T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000263339.4:c.615+184T>C
MANE Select
ENSP00000263339.3:n.615+184T>C
ENST00000263339.3:c.615+184T>C
ENSP00000263339.3:n.615+184T>C
NM_000575.3:c.615+184T>C
NP_000566.3:n.615+184T>C
NM_000575.4:c.615+184T>C
NP_000566.3:n.615+184T>C
NM_000575.5:c.615+184T>C
MANE Select
NP_000566.3:n.615+184T>C
NM_001371554.1:c.615+184T>C
NP_001358483.1:n.615+184T>C
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