ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580404607
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1743114
ClinVar RCV Id:
RCV002337821
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Arg1598Cys
CA5340517
NM_017617.5:c.4792C>T