ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673289
Gene: NOTCH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447830
ClinVar RCV Id:
RCV000518259
RCV001197703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000426.2:p.Arg1076Cys
CA404513546
NM_000435.3:c.3226C>T