Canonical Allele Identifier: PA2825757581
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_001124452.1:p.Arg1694His
CA1707257
NM_001130980.2:c.5081G>A