Canonical Allele Identifier: PA2825749329
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 288183
ClinVar RCV Id: RCV000336319 RCV001067684 RCV001823131
ClinVar Variation Id: 551891
ClinVar RCV Id: RCV000667055 RCV001058931 RCV001784244 RCV003465460
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124449.1:p.Ser340Arg
CA10605994
NM_001130977.2:c.1020C>G
CA347212164
NM_001130977.2:c.1018A>C
CA347212168
NM_001130977.2:c.1020C>A