Allele Registry

Canonical Allele Identifier: PA658670957

Gene: COL12A1 HGNC NCBI

ClinVar RCV:

RCV000532029

RCV001569986

RCV004526704

ClinVar Variation:

475888

HGVS (amino-acid)	Matching Registered Transcripts
NP_004361.3:p.Tyr2150His	CA3892808 NM_004370.6:c.6448T>C