ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107954
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000518361
RCV001089753
RCV002497000
RCV004537854
ClinVar Variation:
447846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Arg141Cys
CA404534145
NM_000435.3:c.421C>T