Allele Registry

Canonical Allele Identifier: PA257755

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV000018781

ClinVar Variation:

17241

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly547Asp	CA257753 NM_000089.4:c.1640G>A