Allele Registry

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.

Canonical Allele Identifier: PA645452012

Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 392573

ClinVar RCV Id: RCV000441682

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly644Ser	CA16608529 NM_000088.4:c.1930G>A