Canonical Allele Identifier: PA2825760402
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 284579
ClinVar RCV Id: RCV000415918 RCV000675087 RCV001844111 RCV002521923
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Pro135Leu
CA1705344
NM_001130982.2:c.404C>T