Allele Registry

Canonical Allele Identifier: PA658668617

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000534961

RCV001560527

ClinVar Variation:

456724

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly338Ser	CA8645430 NM_000088.4:c.1012G>A