ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107944
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9225
ClinVar RCV Id:
RCV000009806
RCV000415016
RCV000516340
RCV003996082
RCV004532318
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Arg133Cys
CA340890
NM_000435.3:c.397C>T