Canonical Allele Identifier: PA2825695060
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 336973
ClinVar RCV Id: RCV000287411 RCV000321328 RCV001138012 RCV001828334 RCV003144233
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Lys1498Asn
CA1707061
NM_001130455.2:c.4494G>T
CA347218052
NM_001130455.2:c.4494G>C