Canonical Allele Identifier: PA2827130845
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41701
ClinVar RCV Id: RCV000034615 RCV000076809 RCV000121844 RCV000162366 RCV000625386 RCV001081746 RCV001356193 RCV003149610 RCV003153324
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308941.1:p.His168Gln
CA009671
NM_001322012.1:c.504C>G
CA366741986
NM_001322012.1:c.504C>A