Canonical Allele Identifier: PA2827134102
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1785662
ClinVar RCV Id: RCV002423974
ClinVar Variation Id: 2451592
ClinVar RCV Id: RCV003187288

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Phe505Leu
CA366738022
NM_001322013.1:c.1515C>G
CA366738023
NM_001322013.1:c.1515C>A
CA366738029
NM_001322013.1:c.1513T>C