ClinGen Allele Registry
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Canonical Allele Identifier:
PA658680564
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452341
ClinVar RCV Id:
RCV000520423
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Arg1627Cys
CA375644555
NM_017617.5:c.4879C>T