Allele Registry

Canonical Allele Identifier: PA916054307

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000180577

RCV001141472

RCV001212040

RCV004020175

ClinVar Variation:

199070

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Glu311Asp	CA248067 NM_058175.3:c.933A>T CA410526857 NM_058175.3:c.933A>C