Canonical Allele Identifier: PA276043
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208853
ClinVar RCV Id: RCV000190889 RCV000439869 RCV001027793 RCV001257603 RCV000999745 RCV001775095 RCV002319460 RCV002503749 RCV002273979 RCV003468878 RCV004553045
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000258.1:p.Arg1809Cys
CA276040
NM_000267.3:c.5425C>T