Canonical Allele Identifier: PA2827112871
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 484325
ClinVar RCV Id: RCV000568742 RCV001297565
ClinVar Variation Id: 2107982
ClinVar RCV Id: RCV003033925
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308934.1:p.Val460Leu
CA366739873
NM_001322005.2:c.1378G>T
CA366739877
NM_001322005.2:c.1378G>C