ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139691022
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
976176
ClinVar RCV Id:
RCV001253387
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Cys251Phe
CA404532525
NM_000435.3:c.752G>T