Allele Registry

Canonical Allele Identifier: PA257910

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018879

ClinVar Variation:

17338

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly764Val	CA257908 NM_000088.4:c.2291G>T