Canonical Allele Identifier: PA192904
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 185777
ClinVar RCV Id: RCV000165261 RCV000205468 RCV000428670 RCV000515307 RCV000680330 RCV001122259 RCV001122261 RCV001122260 RCV002362857
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000258.1:p.Thr1295Ala
CA192901
NM_000267.3:c.3883A>G