Canonical Allele Identifier: PA2825761016
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 196022
ClinVar RCV Id: RCV000367959 RCV000403556 RCV000725533 RCV001079396 RCV001272822 RCV001449649 RCV001810433 RCV004552986
ClinVar Variation Id: 1532369
ClinVar RCV Id: RCV002085001
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Met1000Leu
CA242772
NM_001130982.2:c.2998A>T
CA1706338
NM_001130982.2:c.2998A>C