ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916053870
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
664604
ClinVar RCV Id:
RCV000822729
RCV002271052
RCV003323736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Ala1552Val
CA5340545
NM_017617.5:c.4655C>T