Canonical Allele Identifier: PA2827128917
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 455652
ClinVar RCV Id: RCV000560868

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308940.1:p.Val164Leu
CA366742035
NM_001322011.2:c.490G>T
CA366742037
NM_001322011.2:c.490G>C