Allele Registry

Canonical Allele Identifier: PA2827139092

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000165433

RCV000461355

RCV000759199

RCV002428420

RCV003454336

RCV003454404

ClinVar Variation:

185928

1788364

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308944.1:p.Asn646Lys	CA011125 NM_001322015.1:c.1938T>A CA366736579 NM_001322015.1:c.1938T>G