ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825133105
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1755454
ClinVar RCV Id:
RCV002369422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Tyr2264His
CA399014312
NM_000267.3:c.6790T>C