Canonical Allele Identifier: PA915974123
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 280068
ClinVar RCV Id: RCV000408314 RCV000802767 RCV001804995 RCV003469216
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Arg1374Trp
CA1706889
NM_001130982.2:c.4120C>T