ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825759960
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286151
ClinVar RCV Id:
RCV000294536
RCV000725796
RCV000817667
RCV003114448
RCV003469237
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Arg1806Trp
CA1707356
NM_001130981.2:c.5416C>T