ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826252230
Gene: NOTCH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500000
ClinVar RCV Id:
RCV000595171
RCV000693115
RCV003952977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186930.1:p.Ala602Thr
CA1040450
NM_001200001.2:c.1804G>A