Canonical Allele Identifier: PA2825751837
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 498346
ClinVar RCV Id: RCV000598052 RCV000648023 RCV001274446 RCV001526744
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Arg582Trp
CA1705929
NM_001130978.2:c.1744C>T