Canonical Allele Identifier: PA2825692905
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 167016
ClinVar RCV Id: RCV000153173 RCV001140455
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Ala171Val
CA179983
NM_001130455.2:c.512C>T