ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673104
Gene: NOTCH3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000518724
RCV000763040
RCV000999640
ClinVar Variation:
447849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Cys146Tyr
CA404534075
NM_000435.3:c.437G>A