Canonical Allele Identifier: PA2827125733
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 484317
ClinVar RCV Id: RCV000568346
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308938.1:p.Asn738Lys
CA366734682
NM_001322009.2:c.2214C>G
CA366734684
NM_001322009.2:c.2214C>A