ClinGen Allele Registry
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Canonical Allele Identifier:
PA645387921
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
420824
ClinVar RCV:
RCV000492274
RCV000735821
ClinVar Variation:
428947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Lys2273Arg
CA399014223
NM_001042492.3:c.6818A>G