ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057689535
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005382659
ClinVar Variation:
3879148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ala846Val
CA398984229
NM_001042492.3:c.2537C>T