ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573266678
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1472062
ClinVar RCV Id:
RCV001975812
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Leu2468Met
CA375626504
NM_017617.5:c.7402C>A