ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829865971
Gene: NF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1350993
ClinVar RCV Id:
RCV002042284
RCV004038886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057502.2:p.Val173Ile
CA411142272
NM_016418.5:c.517G>A