Canonical Allele Identifier: PA2825765626
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 2152669
ClinVar RCV Id: RCV003075109
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Ser1340Phe
CA347228496
NM_001130984.2:c.4019C>T