ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891853028
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
572970
ClinVar RCV Id:
RCV000694504
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Gly481Arg
CA375562777
NM_017617.5:c.1441G>C