Canonical Allele Identifier: PA2829467272
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 498954
ClinVar RCV Id: RCV000591140 RCV001376861 RCV002271535 RCV003338676 RCV003465340
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Arg1040Trp
CA347217064
NM_003494.4:c.3118C>T