ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3076447250
Gene: NOTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Ile1616Ser
CA375644702
NM_017617.5:c.4847T>G