Canonical Allele Identifier: PA2825765064
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 284580
ClinVar RCV Id: RCV000338669 RCV000416052 RCV000531939 RCV000393077 RCV001271795
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Glu859Lys
CA1706245
NM_001130984.2:c.2575G>A