ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916078848
Gene: NF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
575367
ClinVar RCV Id:
RCV000697559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861970.1:p.Ser506Cys
CA323119256
NM_181832.3:c.1517C>G