Canonical Allele Identifier: PA2827114357
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421163
ClinVar RCV Id: RCV000479343 RCV000550215 RCV001020378 RCV003470566
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Ala116Thr
CA049263
NM_001322006.2:c.346G>A