Allele Registry

Canonical Allele Identifier: PA658676842

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

443196

ClinVar RCV:

RCV000520483

RCV000653583

ClinVar Variation:

451667

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Val1478Met	CA2188895 NM_004369.4:c.4432G>A