ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825763650
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000648011
RCV001563807
RCV001563808
RCV001563809
ClinVar Variation:
538640
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124455.1:p.Ile1606Val
CA1707160
NM_001130983.2:c.4816A>G