Canonical Allele Identifier: PA2825130738
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 428982
ClinVar RCV Id: RCV000492200 RCV000680829 RCV000632446 RCV002063855 RCV002341164
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000258.1:p.Lys1750Glu
CA399009069
NM_000267.3:c.5248A>G