Allele Registry

Canonical Allele Identifier: PA645454042

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV000497839

RCV000680488

RCV000791269

RCV001164726

RCV001164727

RCV002231166

RCV002446967

RCV003114623

ClinVar Variation:

431901

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Pro809Ser	CA4347447 NM_000089.4:c.2425C>T