Canonical Allele Identifier: PA2827117322
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1481909
ClinVar RCV Id: RCV001994323
ClinVar Variation Id: 2723913
ClinVar RCV Id: RCV003595374
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308936.1:p.Lys72Asn
CA366744154
NM_001322007.2:c.216G>C
CA366744155
NM_001322007.2:c.216G>T