Canonical Allele Identifier: PA2829467627
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 284252
ClinVar RCV Id: RCV000316493 RCV001855139
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Leu1270Arg
CA10604735
NM_003494.4:c.3809T>G