Canonical Allele Identifier: PA2825695378
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 242527
ClinVar RCV Id: RCV000648020 RCV000672247 RCV003469178
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Arg1694Gln
CA351294
NM_001130455.2:c.5081G>A