Canonical Allele Identifier: PA2829466060
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 283965
ClinVar RCV Id: RCV000488274 RCV001142308 RCV001828197 RCV002494838 RCV002518899
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Arg253Gln
CA1705480
NM_003494.4:c.758G>A