ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573176834
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002005965
ClinVar Variation:
1484658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Leu1243Arg
CA398992356
NM_001042492.3:c.3728T>G