Canonical Allele Identifier: PA658674762
Gene: DYSF HGNC NCBI
ClinVar RCV:
RCV000534201
ClinVar Variation:
471318
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124459.1:p.Asp1894Val
CA347223572
NM_001130987.2:c.5681A>T