Canonical Allele Identifier: PA2825768797
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 285148
ClinVar RCV Id: RCV000301411 RCV001082288 RCV001833344
ClinVar Variation Id: 2166693
ClinVar RCV Id: RCV003091891
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Gly156Arg
CA1705380
NM_001130986.2:c.466G>A
CA49758528
NM_001130986.2:c.466G>C