ClinGen Allele Registry
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Canonical Allele Identifier:
PA915965967
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
804643
ClinVar RCV Id:
RCV000991717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Glu195Lys
CA404533455
NM_000435.3:c.583G>A