Canonical Allele Identifier: PA2573266312
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1477785
ClinVar RCV Id: RCV001971762
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060087.3:p.Lys2049Asn
CA375633856
NM_017617.5:c.6147G>T
CA375633859
NM_017617.5:c.6147G>C