Allele Registry

Canonical Allele Identifier: PA257770

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV000018789

ClinVar Variation:

17249

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly472Cys	CA257768 NM_000089.4:c.1414G>T