Canonical Allele Identifier: PA913197112
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 626868
ClinVar RCV Id: RCV000770622 RCV000801209 RCV002271031
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060087.3:p.Ser1651Leu
CA375644257
NM_017617.5:c.4952C>T