Allele Registry

Canonical Allele Identifier: PA257826

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018831

ClinVar Variation:

17290

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly851Asp	CA257824 NM_000088.4:c.2552G>A