Allele Registry

Canonical Allele Identifier: PA2827130073

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV004518727

ClinVar Variation:

3232012

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308940.1:p.Asn464Lys	CA366735985 NM_001322011.2:c.1392C>G CA366735987 NM_001322011.2:c.1392C>A