Canonical Allele Identifier: PA348265
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 219375
ClinVar RCV Id: RCV000203986
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060087.3:p.Arg448Gln
CA348264
NM_017617.5:c.1343G>A