Canonical Allele Identifier: PA915973910
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 497848
ClinVar RCV Id: RCV000593694 RCV001276440 RCV001034781
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Arg1116Cys
CA1706513
NM_001130982.2:c.3346C>T