Allele Registry

Canonical Allele Identifier: PA645454149

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV000413044

RCV000585259

RCV000764737

RCV001164957

RCV001164958

RCV002230749

RCV002278645

RCV002356509

ClinVar Variation:

373178

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Asn1285His	CA4347868 NM_000089.4:c.3853A>C