Allele Registry

Canonical Allele Identifier: PA243026

Gene: COL1A2 HGNC NCBI

ClinVar Allele:

193319

ClinVar RCV:

RCV000176911

RCV002516717

ClinVar Variation:

196158

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly565Ala	CA243024 NM_000089.4:c.1694G>C