ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825759793
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94332
ClinVar RCV Id:
RCV000080298
RCV000669830
RCV000864868
RCV001086563
RCV003952509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Val1664Ile
CA222178
NM_001130981.2:c.4990G>A