Canonical Allele Identifier: PA2827114405
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237915
ClinVar RCV Id: RCV000233053 RCV000566584 RCV000662749 RCV002503891 RCV003998793
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Ala129Val
CA049693
NM_001322006.2:c.386C>T