Allele Registry

Canonical Allele Identifier: PA244933

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000177942

RCV000254307

RCV000270502

RCV001081264

RCV002226459

ClinVar Variation:

197034

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ala2730Asp	CA244931 NM_004369.4:c.8189C>A