Canonical Allele Identifier: PA161228
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 134950
ClinVar RCV Id: RCV000121700 RCV000655246
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060087.3:p.Arg2179Gln
CA161227
NM_017617.5:c.6536G>A