Canonical Allele Identifier: PA2829467283
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 447285
ClinVar RCV Id: RCV001239622 RCV000518215 RCV001834664 RCV003144306
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Arg1046Cys
CA1706459
NM_003494.4:c.3136C>T