ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825752950
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538640
ClinVar RCV Id:
RCV000648011
RCV001563808
RCV001563809
RCV001563807
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Ile1605Val
CA1707160
NM_001130978.2:c.4813A>G