Allele Registry

Canonical Allele Identifier: PA1139691116

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV001226870

ClinVar Variation:

954420

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly764Ala	CA400210193 NM_000088.4:c.2291G>C