Allele Registry

Canonical Allele Identifier: PA645455470

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

266432

ClinVar RCV:

RCV000328641

RCV000341324

RCV001204637

RCV003137882

RCV004547666

ClinVar Variation:

282195

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ala2536Val	CA2187767 NM_004369.4:c.7607C>T