Allele Registry

Canonical Allele Identifier: PA257817

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018828

ClinVar Variation:

17287

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly569Arg	CA257815 NM_000088.4:c.1705G>C