Canonical Allele Identifier: PA164288
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 41675
ClinVar RCV Id: RCV000034587 RCV000129366 RCV000214790 RCV001082296 RCV001122582 RCV001122580 RCV001122581 RCV002362613 RCV003233080 RCV004549402
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000258.1:p.Pro2289Leu
CA164285
NM_000267.3:c.6866C>T