Canonical Allele Identifier: PA2827104216
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_001308933.1:p.Pro111_Pro112delinsValValLys
CA658657646
NM_001322004.2:c.331_336delinsGTTGTGAAG