Allele Registry

Canonical Allele Identifier: PA2825692839

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000415918

RCV000675087

RCV001844111

RCV002521923

ClinVar Variation:

284579

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Pro135Leu	CA1705344 NM_001130455.2:c.404C>T