Canonical Allele Identifier: PA2825759143
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 499041
ClinVar RCV Id: RCV000592866 RCV001563740 RCV001563742 RCV001563741 RCV001854033
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124453.1:p.Arg1058His
CA1706455
NM_001130981.2:c.3173G>A