Canonical Allele Identifier: PA2825751936
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 259069
ClinVar RCV Id: RCV000251223 RCV001081560 RCV001828138 RCV000513999 RCV002519917
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Leu685Val
CA1706042
NM_001130978.2:c.2053C>G