Canonical Allele Identifier: PA2829467758
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 1505069
ClinVar RCV Id: RCV002047961

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Met1344Ile
CA347228433
NM_003494.4:c.4032G>A
CA347228434
NM_003494.4:c.4032G>C
CA347228435
NM_003494.4:c.4032G>T