ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA204407
Gene: NOTCH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000190416
ClinVar Variation:
208337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Phe1592Cys
CA204406
NM_017617.5:c.4775T>G