Canonical Allele Identifier: PA193498
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 185958
ClinVar RCV Id: RCV000165473 RCV000801401 RCV003332131
ClinVar Variation Id: 457763
ClinVar RCV Id: RCV000551348 RCV001726214
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035957.1:p.Glu1929Asp
CA193494
NM_001042492.3:c.5787G>C
CA399010474
NM_001042492.3:c.5787G>T