Allele Registry

Canonical Allele Identifier: PA645453958

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV000309575

RCV000364117

RCV001764329

RCV002058685

RCV002402075

ClinVar Variation:

360955

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Pro522Ser	CA4347121 NM_000089.4:c.1564C>T