ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825135644
Gene: NF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1710973
ClinVar RCV Id:
RCV002292260
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000259.1:p.Asp508His
CA411149695
NM_000268.4:c.1522G>C