Allele Registry

Canonical Allele Identifier: PA645452014

Gene: COL1A1 HGNC NCBI

ClinVar Allele:

414002

ClinVar RCV:

RCV000490745

ClinVar Variation:

425604

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly692Ala	CA400211829 NM_000088.4:c.2075G>C