Allele Registry

Canonical Allele Identifier: PA2825747120

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000647995

RCV001835045

RCV003162956

ClinVar Variation:

538630

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124448.1:p.Arg387Gln	CA1705662 NM_001130976.2:c.1160G>A