ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573266087
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1487918
ClinVar RCV Id:
RCV002008933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Val1604Met
CA5340511
NM_017617.5:c.4810G>A