Canonical Allele Identifier: PA2827139491
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 821485
ClinVar RCV Id: RCV001015948 RCV002550811
ClinVar Variation Id: 1041782
ClinVar RCV Id: RCV001345637
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308944.1:p.His749Gln
CA366734799
NM_001322015.1:c.2247C>G
CA366734800
NM_001322015.1:c.2247C>A