Allele Registry

Canonical Allele Identifier: PA2827134407

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV004518727

ClinVar Variation:

3232012

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308942.1:p.Asn584Lys	CA366735985 NM_001322013.1:c.1752C>G CA366735987 NM_001322013.1:c.1752C>A