ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580114159
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1934828
ClinVar RCV Id:
RCV002622760
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Val644Ile
CA9263501
NM_000435.3:c.1930G>A