Canonical Allele Identifier: PA2827125662
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 142877
ClinVar RCV Id: RCV000132336 RCV000469886 RCV002279947 RCV003894999 RCV003477560
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308938.1:p.Pro720His
CA011663
NM_001322009.2:c.2159C>A