Allele Registry

Canonical Allele Identifier: PA257776

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV000018795

ClinVar Variation:

17254

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly694Arg	CA257774 NM_000089.4:c.2080G>C