Allele Registry

Canonical Allele Identifier: PA658676989

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

450547

ClinVar RCV:

RCV000541035

ClinVar Variation:

476545

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg2061Gln	CA2188423 NM_004369.4:c.6182G>A