Allele Registry

Canonical Allele Identifier: PA2830148601

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000172850

RCV000272249

RCV000403938

RCV000653631

RCV001310783

ClinVar Variation:

192262

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Pro2475Arg	CA200145 NM_057166.5:c.7424C>G