ClinGen Allele Registry
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Canonical Allele Identifier:
PA107973
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9219
ClinVar RCV Id:
RCV000009800
RCV000518159
RCV001003548
RCV002482849
RCV004532317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Arg169Cys
CA340884
NM_000435.3:c.505C>T