Canonical Allele Identifier: PA2580153353
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 1971988
ClinVar RCV Id: RCV002745846
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124459.1:p.Glu74Gln
CA347216519
NM_001130987.2:c.220G>C
CA2580067890
NM_001130987.2:c.219_220delinsCC