Allele Registry

Canonical Allele Identifier: PA257880

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018859

RCV000657897

ClinVar Variation:

17318

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly1151Val	CA257878 NM_000088.4:c.3452G>T