Allele Registry

Canonical Allele Identifier: PA2825757307

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000596365

RCV001370590

RCV001829658

ClinVar Variation:

500018

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124452.1:p.Arg1431Trp	CA1706959 NM_001130980.2:c.4291C>T