Canonical Allele Identifier: PA2825695609
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 283243
ClinVar RCV Id: RCV000595427 RCV000725239 RCV003463747
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Cys1816Phe
CA10604436
NM_001130455.2:c.5447G>T