Allele Registry

Canonical Allele Identifier: PA2830125367

Gene: COL12A1 HGNC NCBI

ClinVar Allele:

456677

ClinVar RCV:

RCV000555051

RCV001561722

RCV003905470

ClinVar Variation:

475900

HGVS (amino-acid)	Matching Registered Transcripts
NP_542376.2:p.Pro1638Leu	CA3892294 NM_080645.3:c.4913C>T