Canonical Allele Identifier: PA645387314
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 231040
ClinVar RCV Id: RCV000219317 RCV000460990 RCV000680828 RCV000780547 RCV001030578 RCV001126130 RCV001126132 RCV001126131 RCV002338690
ClinVar Variation Id: 527455
ClinVar RCV Id: RCV000632325 RCV002257874
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035957.1:p.Glu1720Asp
CA8487141
NM_001042492.3:c.5160G>T
CA399007850
NM_001042492.3:c.5160G>C