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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:
CA343307533
Gene: ITLN1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.160851984A>T (hg19)
chr1:g.160882194A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.160882194A>T , CM000663.2:g.160882194A>T
GRCh38
NC_000001.10:g.160851984A>T , CM000663.1:g.160851984A>T
GRCh37
NC_000001.9:g.159118608A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000326245.4:c.168T>A
MANE Select
ENSP00000323587.3:p.Tyr56Ter
ENST00000326245.3:c.168T>A
ENSP00000323587.3:p.Tyr56Ter
ENST00000464077.1:n.102T>A
NM_017625.2:c.168T>A
NP_060095.2:p.Tyr56Ter
NM_017625.3:c.168T>A
MANE Select
NP_060095.2:p.Tyr56Ter
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