Canonical Allele Identifier: PA2827135475
Gene: PMS2 HGNC NCBI
ClinVar Allele:
474652
ClinVar RCV:
RCV000569611
ClinVar Variation:
480336
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Pro246_Pro247delinsValValLys
CA658657646
NM_001322014.1:c.736_741delinsGTTGTGAAG