ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645491179
Gene: NOTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Arg1438His
CA5340647
NM_017617.5:c.4313G>A