ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3085845649
Gene: NOTCH3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Ala2223Glu
CA404487004
NM_000435.3:c.6668C>A