Allele Registry

Canonical Allele Identifier: PA2830148598

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

421371

ClinVar RCV:

RCV000493809

RCV001142819

RCV002063859

ClinVar Variation:

430329

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ser2466Gly	CA2187327 NM_057166.5:c.7396A>G