ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580404780
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1901885
ClinVar RCV Id:
RCV002577309
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Ala1643Pro
CA375644349
NM_017617.5:c.4927G>C