ClinGen Allele Registry
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Canonical Allele Identifier:
PA2741960933
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2898345
ClinVar RCV Id:
RCV003748871
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Gly2186Ser
CA375631279
NM_017617.5:c.6556G>A