Canonical Allele Identifier: PA645491392
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 264003
ClinVar RCV Id: RCV000493215 RCV000692256 RCV002270161 RCV000766054 RCV002310951
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060087.3:p.Lys2174Arg
CA5339880
NM_017617.5:c.6521A>G