ClinGen Allele Registry
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Canonical Allele Identifier:
PA3076447188
Gene: NOTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Leu1600Gln
CA375644946
NM_017617.5:c.4799T>A