Canonical Allele Identifier: PA2825761509
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 471315
ClinVar RCV Id: RCV000532679 RCV001834797 RCV004024174
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Arg1709His
CA1707257
NM_001130982.2:c.5126G>A