Canonical Allele Identifier: PA251443
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 336
ClinVar RCV Id: RCV000000364 RCV000489593 RCV000626644 RCV000762990 RCV002310992 RCV002305424 RCV003460397
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000258.1:p.Lys1423Glu
CA251440
NM_000267.3:c.4267A>G