Canonical Allele Identifier: PA2825695496
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 197566
ClinVar RCV Id: RCV000178627 RCV003165373 RCV001826908 RCV000813699
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Gln1759Glu
CA245812
NM_001130455.2:c.5275C>G