ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830391480
Gene: NF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1017607
ClinVar RCV Id:
RCV001316780
RCV002456419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861546.1:p.Leu82Pro
CA411152973
NM_181825.3:c.245T>C