ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580404721
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1707085
ClinVar RCV Id:
RCV002286001
RCV003308098
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Pro1618Ser
CA375644672
NM_017617.5:c.4852C>T