Allele Registry

Canonical Allele Identifier: PA257823

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018830

ClinVar Variation:

17289

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly737Asp	CA257821 NM_000088.4:c.2210G>A