Allele Registry

Canonical Allele Identifier: PA2825765703

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000596365

RCV001370590

RCV001829658

ClinVar Variation:

500018

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124456.1:p.Arg1401Trp	CA1706959 NM_001130984.2:c.4201C>T