ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580114050
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1807358
ClinVar RCV Id:
RCV002475315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Thr257Ile
CA404532354
NM_000435.3:c.770C>T