Canonical Allele Identifier: PA2827135000
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135943
ClinVar RCV Id: RCV000200993 RCV000128980 RCV000662720 RCV000758689 RCV000587673 RCV001084082 RCV001093681 RCV001356925 RCV003492544
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Ser128Leu
CA012032
NM_001322014.1:c.383C>T