Allele Registry

Canonical Allele Identifier: PA891864943

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000165433

RCV000461355

RCV000759199

RCV002428420

RCV003454336

RCV003454404

ClinVar Variation:

185928

1788364

HGVS (amino-acid)	Matching Registered Transcripts
NP_000526.2:p.Asn749Lys	CA011125 NM_000535.7:c.2247T>A CA366736579 NM_000535.7:c.2247T>G