ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741986344
Gene: NOTCH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2639040
ClinVar RCV Id:
RCV003406716
RCV003778368
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077719.2:p.His2374Asp
CA341873295
NM_024408.4:c.7120C>G