Canonical Allele Identifier: PA2825751300
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 2172384
ClinVar RCV Id: RCV003083009
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Gly76Arg
CA347216556
NM_001130978.2:c.226G>A
CA347216557
NM_001130978.2:c.226G>C