Allele Registry

Canonical Allele Identifier: PA2829466453

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000647986

RCV000765696

RCV001662702

RCV001835043

ClinVar Variation:

538623

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Tyr522His	CA1705873 NM_003494.4:c.1564T>C