ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139691285
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
870211
ClinVar RCV Id:
RCV001089755
RCV001288880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Arg640Cys
CA9263506
NM_000435.3:c.1918C>T