Allele Registry

Canonical Allele Identifier: PA2830145304

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

250691

ClinVar RCV:

RCV000242993

RCV000725228

RCV001141744

RCV001326529

ClinVar Variation:

259297

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Glu485Lys	CA2189345 NM_057164.5:c.1453G>A