Canonical Allele Identifier: PA353687
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222758
ClinVar RCV Id: RCV000208466 RCV001060006 RCV001509385 RCV002270023 RCV002363043 RCV002500668 RCV003401116
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060087.3:p.Ala2069Thr
CA353686
NM_017617.5:c.6205G>A