ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499283236
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1036564
ClinVar RCV Id:
RCV001339595
RCV001552691
RCV002271221
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Arg1622His
CA5340504
NM_017617.5:c.4865G>A