ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573265592
Gene: NOTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Glu827Lys
CA5341294
NM_017617.5:c.2479G>A