Allele Registry

Canonical Allele Identifier: PA658804220

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000631478

RCV001128044

RCV001128045

RCV001128046

RCV001591407

RCV002431861

ClinVar Variation:

526852

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Ala84Gly	CA8645804 NM_000088.4:c.251C>G