Allele Registry

Canonical Allele Identifier: PA2499295941

Gene: COL12A1 HGNC NCBI

ClinVar RCV:

RCV001592436

RCV001866218

RCV003818144

ClinVar Variation:

1218594

2953010

HGVS (amino-acid)	Matching Registered Transcripts
NP_542376.2:p.Gly729Arg	CA3893035 NM_080645.3:c.2185G>A CA364734419 NM_080645.3:c.2185G>C