Allele Registry

Canonical Allele Identifier: PA281097

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018884

RCV000415259

RCV000631472

RCV001198512

RCV002276563

RCV002496407

RCV003225023

ClinVar Variation:

17343

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Arg312Cys	CA281095 NM_000088.4:c.934C>T