Canonical Allele Identifier: PA2827139285
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 480303
ClinVar RCV Id: RCV000563840 RCV000630212 RCV001775884
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308944.1:p.Met694Ile
CA366735716
NM_001322015.1:c.2082G>T
CA366735717
NM_001322015.1:c.2082G>C
CA366735719
NM_001322015.1:c.2082G>A