ClinGen Allele Registry
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Canonical Allele Identifier:
PA3076394873
Gene: NOTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Ile1616Met
CA375644700
NM_017617.5:c.4848C>G