Allele Registry

Canonical Allele Identifier: PA1139683530

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV001203031

RCV001828630

RCV003145373

ClinVar Variation:

934608

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124454.1:p.Pro1432His	CA49779936 NM_001130982.2:c.4295C>A