Allele Registry

Canonical Allele Identifier: PA2827128301

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000568346

ClinVar Variation:

484317

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308939.1:p.Asn675Lys	CA366734682 NM_001322010.2:c.2025C>G CA366734684 NM_001322010.2:c.2025C>A