Allele Registry

Canonical Allele Identifier: PA281091

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018863

RCV001596935

RCV004549378

ClinVar Variation:

17322

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly1079Ser	CA281089 NM_000088.4:c.3235G>A