Allele Registry

Canonical Allele Identifier: PA2825694909

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000596365

RCV001370590

RCV001829658

ClinVar Variation:

500018

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Arg1415Trp	CA1706959 NM_001130455.2:c.4243C>T