Canonical Allele Identifier: PA2825747702
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 196022
ClinVar Variation Id: 1532369
ClinVar RCV Id: RCV002085001

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124448.1:p.Met954Leu
CA242772
NM_001130976.2:c.2860A>T
CA1706338
NM_001130976.2:c.2860A>C