Canonical Allele Identifier: PA658816316
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 520044
ClinVar RCV Id: RCV001548292 RCV002531841 RCV002315089
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060087.3:p.Ala1643Thr
CA201643823
NM_017617.5:c.4927G>A