ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658680645
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
477960
ClinVar RCV Id:
RCV000550878
RCV003159950
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Cys2168Tyr
CA201633926
NM_017617.5:c.6503G>A