Allele Registry

Canonical Allele Identifier: PA2830148429

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000555066

RCV000594693

ClinVar Variation:

476562

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Thr2265Met	CA2187492 NM_057166.5:c.6794C>T