Canonical Allele Identifier: PA2829467286
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 2441152
ClinVar RCV Id: RCV003146981
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Gln1052Lys
CA347217130
NM_003494.4:c.3154C>A