Allele Registry

Canonical Allele Identifier: PA658804223

Gene: COL1A1 HGNC NCBI

ClinVar Allele:

531524

ClinVar RCV:

RCV000631480

RCV001091446

RCV003444610

ClinVar Variation:

526854

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly200Val	CA291548113 NM_000088.4:c.599G>T