Canonical Allele Identifier: PA645491200
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 429382
ClinVar RCV Id: RCV000678731 RCV000869038 RCV002063856 RCV002314848 RCV004535550
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060087.3:p.Arg1633His
CA5340498
NM_017617.5:c.4898G>A