Canonical Allele Identifier: PA2825748064
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 196895
ClinVar RCV Id: RCV000177777 RCV000656846 RCV001084687 RCV001336578 RCV002516753 RCV003937609
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124448.1:p.Arg1240Trp
CA244680
NM_001130976.2:c.3718C>T