Canonical Allele Identifier: PA2825769205
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 624138
ClinVar RCV Id: RCV000762271
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Gly532Arg
CA347217527
NM_001130986.2:c.1594G>C