ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830394975
Gene: NF2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861966.1:p.Leu493Pro
CA021356
NM_181828.3:c.1478T>C