Canonical Allele Identifier: PA2827108740
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1786287
ClinVar RCV Id: RCV002417664
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308933.1:p.Asn573Lys
CA366737941
NM_001322004.2:c.1719C>G
CA366737942
NM_001322004.2:c.1719C>A