Canonical Allele Identifier: PA110765
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 287816
ClinVar RCV Id: RCV000356385 RCV000487973 RCV001085395 RCV000675073 RCV001449928 RCV003448906 RCV004549599
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Arg2000Gln
CA1707599
NM_003494.4:c.5999G>A