Allele Registry

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Canonical Allele Identifier: PA1139674013

Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 972409

ClinVar RCV Id: RCV001248434 RCV002269352 RCV002366088

ClinVar Variation Id: 1473057

ClinVar RCV Id: RCV002005158 RCV002507730

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035957.1:p.Phe2360Leu	CA399015535 NM_001042492.3:c.7078T>C CA399015539 NM_001042492.3:c.7080T>A CA399015540 NM_001042492.3:c.7080T>G