Allele Registry

Canonical Allele Identifier: PA111114

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000424011

RCV000671182

RCV001861509

RCV003470383

ClinVar Variation:

381677

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Pro1970Ser	CA16604254 NM_003494.4:c.5908C>T