ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741817165
Gene: NOTCH3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003406872
ClinVar Variation:
2649432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Arg1560Gln
CA9262874
NM_000435.3:c.4679G>A