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: PA2830124944

Gene: COL12A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 475893

ClinVar RCV Id: RCV000534733 RCV001509277

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_542376.2:p.Thr1244Met	CA3892611 NM_080645.3:c.3731C>T