ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916053053
Gene: NOTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Pro407Leu
CA5341882
NM_017617.5:c.1220C>T