Canonical Allele Identifier: PA2827100444
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135065
ClinVar RCV Id: RCV000121840 RCV000515611 RCV000860105 RCV001789176 RCV003997355
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308932.1:p.Lys406Glu
CA044701
NM_001322003.2:c.1216A>G