Canonical Allele Identifier: PA2825756000
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 499205
ClinVar RCV Id: RCV000593233 RCV001240944 RCV001834886
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124452.1:p.Pro248Leu
CA1705435
NM_001130980.2:c.743C>T