Canonical Allele Identifier: PA2825763004
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94300
ClinVar RCV Id: RCV000080265 RCV000526480 RCV001276438 RCV001699117
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124455.1:p.Arg1023Gln
CA147743
NM_001130983.2:c.3068G>A