Canonical Allele Identifier: PA2827114881
Gene: PMS2 HGNC NCBI
ClinVar Allele:
474652
ClinVar RCV:
RCV000569611
ClinVar Variation:
480336
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Pro246_Pro247delinsValValLys
CA658657646
NM_001322006.2:c.736_741delinsGTTGTGAAG