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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:
CA393995835
Gene: HBA1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1265843445
gnomAD v2:
16-227310-T-G
gnomAD v4:
16-177311-T-G
MyVariant Identifiers:
chr16:g.227310T>G (hg19)
chr16:g.177311T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.177311T>G , CM000678.2:g.177311T>G
GRCh38
NC_000016.9:g.227310T>G , CM000678.1:g.227310T>G
GRCh37
NC_000016.8:g.167310T>G
NCBI36
NG_000006.1:g.38174T>G
NG_059186.1:g.5661T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000320868.9:c.329T>G
MANE Select
ENSP00000322421.5:p.Leu110Arg
ENST00000397797.1:c.233T>G
ENSP00000380899.1:p.Leu78Arg
ENST00000472694.1:n.465T>G
NM_000558.4:c.329T>G
NP_000549.1:p.Leu110Arg
NM_000558.5:c.329T>G
MANE Select
NP_000549.1:p.Leu110Arg
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