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: PA2573060835

Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101466

ClinVar RCV Id: RCV000087705 RCV001811400

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000081.2:p.Gly1191Asp	CA006679 NM_000090.4:c.3572G>A