Canonical Allele Identifier: PA161196
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 134934
ClinVar RCV Id: RCV000121684 RCV000230241 RCV002269859 RCV003114267 RCV002284189 RCV002312813 RCV002505066
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060087.3:p.Pro1377Ser
CA161195
NM_017617.5:c.4129C>T