Canonical Allele Identifier: PA645476992
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 284573
ClinVar RCV Id: RCV000293243 RCV002519155
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124459.1:p.Ala85Val
CA1705297
NM_001130987.2:c.254C>T