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: PA2573060756

Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101294

ClinVar RCV Id: RCV000087532

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000081.2:p.Gly1035Val	CA006109 NM_000090.4:c.3104G>T