ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108678
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161467
ClinVar RCV Id:
RCV000149001
RCV001657843
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Cys49Phe
CA174091
NM_000435.3:c.146G>T