ClinGen Allele Registry
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Canonical Allele Identifier:
PA658680570
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
477936
ClinVar RCV Id:
RCV000557460
RCV000766056
RCV001553148
RCV002315052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Arg1663Gln
CA5340483
NM_017617.5:c.4988G>A