ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580404811
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1915704
ClinVar RCV Id:
RCV002594021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Arg1661Gln
CA375644126
NM_017617.5:c.4982G>A