Allele Registry

Canonical Allele Identifier: PA645451153

Gene: COL12A1 HGNC NCBI

ClinVar RCV:

RCV000489488

RCV000803721

ClinVar Variation:

426164

HGVS (amino-acid)	Matching Registered Transcripts
NP_004361.3:p.Arg1742Cys	CA3893225 NM_004370.6:c.5224C>T