Allele Registry

Canonical Allele Identifier: PA257913

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018892

ClinVar Variation:

17349

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly254Glu	CA257911 NM_000088.4:c.761G>A