Canonical Allele Identifier: PA2827119378
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 984459
ClinVar RCV Id: RCV001264444
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308936.1:p.Asp598Glu
CA366737972
NM_001322007.2:c.1794C>G
CA366737973
NM_001322007.2:c.1794C>A