Canonical Allele Identifier: PA2825751118
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 288412
ClinVar RCV Id: RCV000294790 RCV000310459 RCV000373089 RCV001087591
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124449.1:p.Ser2002Arg
CA1707595
NM_001130977.2:c.6004A>C
CA347226769
NM_001130977.2:c.6006T>G
CA347226770
NM_001130977.2:c.6006T>A