ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108047
Gene: NOTCH3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Arg544Cys
CA9263595
NM_000435.3:c.1630C>T