Allele Registry

Canonical Allele Identifier: PA2827127968

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV004518727

ClinVar Variation:

3232012

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308939.1:p.Asn588Lys	CA366735985 NM_001322010.2:c.1764C>G CA366735987 NM_001322010.2:c.1764C>A