Allele Registry

Canonical Allele Identifier: PA257829

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018832

RCV000991594

RCV001236925

ClinVar Variation:

17291

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly845Arg	CA257827 NM_000088.4:c.2533G>A CA400207584 NM_000088.4:c.2533G>C