Allele Registry

Canonical Allele Identifier: PA2827129575

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV002016779

RCV002407297

ClinVar Variation:

1511524

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308940.1:p.Gln332Glu	CA366739216 NM_001322011.2:c.994C>G