Canonical Allele Identifier: PA2830307132
Gene: AMER1 HGNC NCBI
ClinVar RCV:
RCV001280780
ClinVar Variation:
992343
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689637.3:p.Lys1135_Ter1136insGlnLeuLeuSerIleLeuGlu
CA413300836
NM_152424.4:c.3406T>C