ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825127862
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1050146
ClinVar RCV:
RCV001364453
ClinVar Variation:
1055730
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Glu1238Gln
CA398992279
NM_000267.3:c.3712G>C