Canonical Allele Identifier: PA2499248716
Gene: PMS2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Lys450Glu
CA366742285
NM_001322014.1:c.1348A>G