ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101101
Gene: NOTCH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000144236
ClinVar Variation:
156007
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Cys1496Tyr
CA345933
NM_017617.5:c.4487G>A