Canonical Allele Identifier: PA2827130593
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 142561
ClinVar RCV Id: RCV000131757 RCV000198383 RCV000855605 RCV000586259 RCV000987834 RCV001355081 RCV001535477 RCV002275085 RCV003323294
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308941.1:p.Val104Met
CA009419
NM_001322012.1:c.310G>A