ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA236335
Gene: NOTCH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000171429
ClinVar Variation:
191240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Leu2067Pro
CA236334
NM_017617.5:c.6200T>C