Allele Registry

Canonical Allele Identifier: PA2825762102

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000080300

RCV000531528

RCV001273964

RCV001449921

RCV001699034

ClinVar Variation:

94334

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124455.1:p.Ala171Glu	CA147766 NM_001130983.2:c.512C>A