Allele Registry

Canonical Allele Identifier: PA257898

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018870

ClinVar Variation:

17329

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly533Asp	CA257896 NM_000088.4:c.1598G>A