ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830393427
Gene: NF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
580632
ClinVar RCV Id:
RCV000704229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861966.1:p.Pro49Gln
CA411153131
NM_181828.3:c.146C>A