ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580403533
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2170058
ClinVar RCV Id:
RCV003088507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Ser458Leu
CA5341824
NM_017617.5:c.1373C>T