Canonical Allele Identifier: PA2825769147
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 283459
ClinVar RCV Id: RCV000269469 RCV000330051 RCV000361672 RCV000525084 RCV001274442
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Arg463His
CA1705768
NM_001130986.2:c.1388G>A