ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139691028
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
995057
ClinVar RCV Id:
RCV001288899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Cys271Arg
CA404531909
NM_000435.3:c.811T>C