Canonical Allele Identifier: PA2825125285
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 322570
ClinVar RCV Id: RCV000263054 RCV000277617 RCV000318328 RCV000354441
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000258.1:p.Leu550Pro
CA10639323
NM_000267.3:c.1649T>C