Canonical Allele Identifier: PA2825757579
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 288630
ClinVar RCV Id: RCV000310014 RCV000362344 RCV000388999 RCV000493108 RCV001079670 RCV000986770 RCV001526431
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124452.1:p.Ala1693Ser
CA1707253
NM_001130980.2:c.5077G>T