Allele Registry

Canonical Allele Identifier: PA645451912

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000496233

RCV000520103

ClinVar Variation:

431382

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly416Asp	CA400218794 NM_000088.4:c.1247G>A