Canonical Allele Identifier: PA2825751836
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 336956
ClinVar RCV Id: RCV000306031 RCV000403176 RCV001080579 RCV000665544 RCV000727415
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Arg582Leu
CA1705931
NM_001130978.2:c.1745G>T