ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645491884
Gene: NOTCH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288470
ClinVar RCV Id:
RCV000359132
RCV001514294
RCV003897634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Val1438Ile
CA1039872
NM_024408.4:c.4312G>A