Canonical Allele Identifier: PA3075982243
Gene: NOTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060087.3:p.Phe1592Ser
CA375645052
NM_017617.5:c.4775T>C
CA3047143776
NM_017617.5:c.4775_4776delinsCT