ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830397602
Gene: NF2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861967.1:p.Glu486Lys
CA411149993
NM_181829.3:c.1456G>A