Allele Registry

Canonical Allele Identifier: PA2830145094

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000284694

RCV002521973

ClinVar Variation:

287442

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Ser240Thr	CA2189510 NM_057164.5:c.718T>A