Allele Registry

Canonical Allele Identifier: PA645453779

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV000430596

RCV002230081

ClinVar Variation:

393233

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly136Asp	CA16605302 NM_000089.4:c.407G>A