Canonical Allele Identifier: PA2825693244
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94264
ClinVar RCV Id: RCV000080227 RCV000513692 RCV000670929 RCV001083703
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Val375Leu
CA147717
NM_001130455.2:c.1123G>C
CA347213315
NM_001130455.2:c.1123G>T