Canonical Allele Identifier: PA191371
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 185223
ClinVar RCV Id: RCV000164602 RCV000465877 RCV000681280 RCV002478504 RCV003162692
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000258.1:p.Ser2474Phe
CA191368
NM_000267.3:c.7421C>T