Canonical Allele Identifier: PA2829468582
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 281237
ClinVar RCV Id: RCV000302512 RCV000547122 RCV001274105 RCV001531488
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Arg1717Trp
CA1707306
NM_003494.4:c.5149C>T