Allele Registry

Canonical Allele Identifier: PA260300

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000029569

RCV001247065

RCV003137543

RCV004018683

ClinVar Variation:

35914

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Arg865His	CA260298 NM_000088.4:c.2594G>A