Allele Registry

Canonical Allele Identifier: PA2825747247

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000647986

RCV000765696

RCV001662702

RCV001835043

ClinVar Variation:

538623

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124448.1:p.Tyr508His	CA1705873 NM_001130976.2:c.1522T>C