Allele Registry

Canonical Allele Identifier: PA645451965

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000659352

RCV001125672

RCV001125673

RCV001125674

RCV001508818

RCV002279235

RCV002413314

ClinVar Variation:

418140

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Arg564His	CA8645135 NM_000088.4:c.1691G>A