Allele Registry

Canonical Allele Identifier: PA658668657

Gene: COL1A1 HGNC NCBI

ClinVar Allele:

468430

ClinVar RCV:

RCV000533017

RCV002279327

RCV002289720

ClinVar Variation:

456742

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Glu678Lys	CA400212062 NM_000088.4:c.2032G>A