ClinGen Allele Registry
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Canonical Allele Identifier:
PA353687
Gene: NOTCH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
224368
ClinVar RCV:
RCV000208466
RCV001060006
RCV001509385
RCV002270023
RCV002363043
RCV002500668
RCV003401116
ClinVar Variation:
222758
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Ala2069Thr
CA353686
NM_017617.5:c.6205G>A