Canonical Allele Identifier: PA2827112291
Gene: PMS2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308934.1:p.Lys315Glu
CA366742285
NM_001322005.2:c.943A>G