Canonical Allele Identifier: PA2827113048
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411037
ClinVar RCV Id: RCV000765955 RCV000463007 RCV000573574 RCV001821289 RCV004001875
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308934.1:p.Gln508Arg
CA045882
NM_001322005.2:c.1523A>G