Canonical Allele Identifier: PA2825752685
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 1505069
ClinVar RCV Id: RCV002047961

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Met1344Ile
CA347228433
NM_001130978.2:c.4032G>A
CA347228434
NM_001130978.2:c.4032G>C
CA347228435
NM_001130978.2:c.4032G>T