Allele Registry

Canonical Allele Identifier: PA658670948

Gene: COL12A1 HGNC NCBI

ClinVar Allele:

456707

ClinVar RCV:

RCV000537883

RCV001509278

RCV001542757

ClinVar Variation:

475877

HGVS (amino-acid)	Matching Registered Transcripts
NP_004361.3:p.Val1823Ile	CA3893123 NM_004370.6:c.5467G>A