Canonical Allele Identifier: PA916053968
Gene: NOTCH1 HGNC NCBI
ClinVar RCV:
RCV000798259
ClinVar Variation:
644363
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060087.3:p.Thr1996Met
CA5340067
NM_017617.5:c.5987C>T