ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA161286
Gene: NOTCH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134979
ClinVar RCV Id:
RCV000121729
RCV000728639
RCV001497958
RCV003905162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.Ala1721Thr
CA161285
NM_024408.4:c.5161G>A