Allele Registry

Canonical Allele Identifier: PA260336

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV001770043

RCV001824577

RCV002228061

RCV002453270

ClinVar Variation:

35933

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Pro383His	CA260334 NM_000089.4:c.1148C>A