Allele Registry

Canonical Allele Identifier: PA2580104597

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV002277774

ClinVar Variation:

1701990

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly472Arg	CA368221811 NM_000089.4:c.1414G>C