Allele Registry

Canonical Allele Identifier: PA916025349

Gene: PMS2 HGNC NCBI

ClinVar Allele:

50157

ClinVar RCV:

RCV000034634

RCV000165656

RCV000231924

RCV000412437

RCV001290448

ClinVar Variation:

41718

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308942.1:p.Leu45Phe	CA012634 NM_001322013.1:c.135G>T CA366743793 NM_001322013.1:c.135G>C