Canonical Allele Identifier: PA2825695921
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 287816
ClinVar RCV Id: RCV000356385 RCV000487973 RCV001085395 RCV000675073 RCV001449928 RCV003448906 RCV004549599
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Arg2001Gln
CA1707599
NM_001130455.2:c.6002G>A