Allele Registry

Canonical Allele Identifier: PA916054040

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000324629

RCV001301872

ClinVar Variation:

285825

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Met59Thr	CA10605263 NM_058175.3:c.176T>C