Canonical Allele Identifier: PA2827130408
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411040
ClinVar RCV Id: RCV000466147 RCV001016024 RCV002481461
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308940.1:p.Asn551_Ter552insGlyPro
CA16612251
NM_001322011.2:c.1654T>G