Canonical Allele Identifier: PA191372
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 185223
ClinVar RCV Id: RCV000164602 RCV000465877 RCV000681280 RCV002478504 RCV003162692
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035957.1:p.Ser2495Phe
CA191368
NM_001042492.3:c.7484C>T