Canonical Allele Identifier: PA2827129803
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_001308940.1:p.Asp393Glu
CA366737972
NM_001322011.2:c.1179C>G
CA366737973
NM_001322011.2:c.1179C>A