ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573266110
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1371462
ClinVar RCV Id:
RCV001879009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Ala1640Val
CA375644366
NM_017617.5:c.4919C>T