ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3076043262
Gene: NOTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Ala465Ser
CA375562966
NM_017617.5:c.1393G>T