Canonical Allele Identifier: PA2827116119
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486053
ClinVar RCV Id: RCV000575750

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Lys561Asn
CA366739641
NM_001322006.2:c.1683G>T
CA366739643
NM_001322006.2:c.1683G>C