ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825765911
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000558437
RCV000592365
RCV001271549
ClinVar Variation:
471311
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Ile1615Val
CA1707194
NM_001130984.2:c.4843A>G