Canonical Allele Identifier: PA891864321
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_000526.2:p.Pro246_Pro247delinsValValLys
CA658657646
NM_000535.7:c.736_741delinsGTTGTGAAG