Canonical Allele Identifier: PA2827098368
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 185925
ClinVar RCV Id: RCV000165430 RCV000471981 RCV000481332 RCV001193854 RCV001356004 RCV001798589 RCV003462172 RCV003995415
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308932.1:p.Glu173Asp
CA013290
NM_001322003.2:c.519G>C
CA366743186
NM_001322003.2:c.519G>T