Canonical Allele Identifier: PA219468
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 68320
ClinVar RCV Id: RCV000059172 RCV000659959
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000258.1:p.Ser82Phe
CA219465
NM_000267.3:c.245C>T