Allele Registry

Canonical Allele Identifier: PA281506

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000191071

ClinVar Variation:

209140

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly956Arg	CA281504 NM_000088.4:c.2866G>A CA400205049 NM_000088.4:c.2866G>C