ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830402095
Gene: NF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3021669
ClinVar RCV Id:
RCV003880252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861969.1:p.Leu417Phe
CA411149647
NM_181831.3:c.1249C>T