ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645386610
Gene: NF2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_057502.2:p.Arg351His
NM_016418.5:c.1052G>A