Canonical Allele Identifier: PA2825763913
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 693999
ClinVar RCV Id: RCV000855417
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124455.1:p.Trp1840Cys
CA347222737
NM_001130983.2:c.5520G>C
CA347222740
NM_001130983.2:c.5520G>T