Canonical Allele Identifier: PA2827114553
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 182811
ClinVar RCV Id: RCV000160898 RCV000215633 RCV000465290 RCV000758687 RCV000765966 RCV003416029 RCV003454388
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Arg169His
CA012229
NM_001322006.2:c.506G>A