Allele Registry

Canonical Allele Identifier: PA658668576

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000526144

RCV001580124

ClinVar Variation:

456792

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly203Val	CA291548107 NM_000088.4:c.608G>T