Allele Registry

Canonical Allele Identifier: PA2827113840

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000132047

RCV000199501

RCV000479601

RCV000656953

RCV003149910

RCV003483508

ClinVar Variation:

142688

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308934.1:p.Ile718Met	CA011680 NM_001322005.2:c.2154C>G