Allele Registry

Canonical Allele Identifier: PA645477728

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000278721

RCV000792442

RCV001274838

RCV002518888

RCV003909953

ClinVar Variation:

283624

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Ser1452Leu	CA1706972 NM_001130987.2:c.4355C>T