Canonical Allele Identifier: PA169451
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 142804
ClinVar RCV Id: RCV000132225 RCV000168027 RCV000484858 RCV000515448 RCV001128219 RCV001128218 RCV001128217 RCV002345446
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000258.1:p.Ser1817Cys
CA169448
NM_000267.3:c.5450C>G