Canonical Allele Identifier: PA2825769814
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 128947
ClinVar RCV Id: RCV000116927 RCV000532523 RCV001086595 RCV001826784
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Arg1083His
CA152663
NM_001130986.2:c.3248G>A