ClinGen Allele Registry
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Canonical Allele Identifier:
PA645490887
Gene: NOTCH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
223689
ClinVar RCV:
RCV000408653
ClinVar Variation:
221999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Gly193Asp
CA10602398
NM_017617.5:c.578G>A