Allele Registry

Canonical Allele Identifier: PA2830150146

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000653587

RCV003144453

RCV003163007

ClinVar Variation:

542996

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Pro1935His	CA2188290 NM_057167.4:c.5804C>A