Allele Registry

Canonical Allele Identifier: PA658668672

Gene: COL1A1 HGNC NCBI

ClinVar Allele:

467948

ClinVar RCV:

RCV000525106

RCV002438296

RCV002497061

RCV003319367

ClinVar Variation:

456752

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Ala868Thr	CA8644745 NM_000088.4:c.2602G>A