Allele Registry

Canonical Allele Identifier: PA2830145924

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000346069

RCV001239780

RCV003137962

RCV004021805

ClinVar Variation:

335139

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Thr319Met	CA2189591 NM_057165.5:c.956C>T