ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113470
Gene: NOTCH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
24269
ClinVar RCV:
RCV000009811
ClinVar Variation:
9230
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Cys444Tyr
CA340897
NM_024408.4:c.1331G>A