Canonical Allele Identifier: PA916026191
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 185928
ClinVar RCV Id: RCV000165433 RCV000461355 RCV000759199 RCV003454404
ClinVar Variation Id: 1788364
ClinVar RCV Id: RCV002428420 RCV003454336
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Asn749Lys
CA011125
NM_001322014.1:c.2247T>A
CA366736579
NM_001322014.1:c.2247T>G