ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891859896
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
571033
ClinVar RCV:
RCV000694567
ClinVar Variation:
573019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Leu847Arg
CA398984236
NM_001042492.3:c.2540T>G