Canonical Allele Identifier: PA2827138580
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 188287
ClinVar RCV Id: RCV000168273 RCV000486825 RCV000574365 RCV003468829 RCV003995619
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308944.1:p.Lys507Glu
CA010309
NM_001322015.1:c.1519A>G