ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA161210
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134941
ClinVar RCV Id:
RCV000121691
RCV000806389
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Arg1672His
CA161209
NM_017617.5:c.5015G>A