Canonical Allele Identifier: PA2825767480
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_001124457.1:p.Arg1040Gln
CA147743
NM_001130985.2:c.3119G>A