Canonical Allele Identifier: PA2825128333
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527600
ClinVar RCV Id: RCV000632520 RCV002377363
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000258.1:p.Glu1330Lys
CA398994831
NM_000267.3:c.3988G>A