Canonical Allele Identifier: PA2825756225
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 291123
ClinVar RCV Id: RCV000313593 RCV001240422 RCV004021322
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124452.1:p.Asn442Lys
CA1705704
NM_001130980.2:c.1326C>A
CA347214779
NM_001130980.2:c.1326C>G