Allele Registry

Canonical Allele Identifier: PA2830148438

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

268333

ClinVar RCV:

RCV000312116

RCV000558809

RCV000725390

ClinVar Variation:

284096

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Thr2272Met	CA2187481 NM_057166.5:c.6815C>T