Canonical Allele Identifier: PA2827117511
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 939490
ClinVar RCV Id: RCV001208901

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308936.1:p.Ile117Leu
CA366743886
NM_001322007.2:c.349A>T
CA366743887
NM_001322007.2:c.349A>C