ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829881354
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3201355
ClinVar RCV Id:
RCV004488222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Ala2173Asp
CA375631434
NM_017617.5:c.6518C>A