Canonical Allele Identifier: PA2827130640
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127758
ClinVar RCV Id: RCV000115655 RCV000228417 RCV000565134 RCV003467051 RCV003415890
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308941.1:p.Arg116Cys
CA009466
NM_001322012.1:c.346C>T