Allele Registry

Canonical Allele Identifier: PA2825756187

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000647995

RCV001835045

RCV003162956

ClinVar Variation:

538630

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124452.1:p.Arg418Gln	CA1705662 NM_001130980.2:c.1253G>A