Canonical Allele Identifier: PA2825753541
Gene: DYSF HGNC NCBI
ClinVar RCV:
RCV000538326
ClinVar Variation:
471280
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124451.1:p.Trp52Arg
CA347216250
NM_001130979.2:c.154T>A
CA347216252
NM_001130979.2:c.154T>C