Allele Registry

Canonical Allele Identifier: PA2830150603

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

194195

ClinVar RCV:

RCV000177942

RCV000254307

RCV000270502

RCV001081264

RCV002226459

ClinVar Variation:

197034

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Ala2524Asp	CA244931 NM_057167.4:c.7571C>A