Canonical Allele Identifier: PA2825127522
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420079
ClinVar RCV Id: RCV000485269 RCV000632422
ClinVar Variation Id: 457650
ClinVar RCV Id: RCV000542239 RCV001811032 RCV000762987
ClinVar Variation Id: 566155
ClinVar RCV Id: RCV000685898 RCV001592861
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000258.1:p.Met1149Ile
CA16620364
NM_000267.3:c.3447G>A
CA398989305
NM_000267.3:c.3447G>T
CA398989307
NM_000267.3:c.3447G>C