Canonical Allele Identifier: PA2827106131
Gene: PMS2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308933.1:p.Lys315Glu
CA366742285
NM_001322004.2:c.943A>G