Allele Registry

Canonical Allele Identifier: PA2830145204

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

274404

ClinVar RCV:

RCV000378139

RCV001329867

ClinVar Variation:

290167

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Arg361His	CA2189433 NM_057164.5:c.1082G>A