Canonical Allele Identifier: PA2825766920
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 285813
ClinVar RCV Id: RCV000335981 RCV000535143 RCV001274443 RCV002480026
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124457.1:p.Arg500Cys
CA1705795
NM_001130985.2:c.1498C>T