Allele Registry

Canonical Allele Identifier: PA2573161380

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV001918022

RCV004552092

ClinVar Variation:

1400106

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly815Ala	CA291543364 NM_000088.4:c.2444G>C