ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108092
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374637
ClinVar RCV Id:
RCV000415985
RCV000763036
RCV002221233
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Arg607Cys
CA9263542
NM_000435.3:c.1819C>T