Canonical Allele Identifier: PA2825694827
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 1932275
ClinVar RCV Id: RCV002649399
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Asn1374Lys
CA49779104
NM_001130455.2:c.4122C>A
CA347228694
NM_001130455.2:c.4122C>G