Canonical Allele Identifier: PA2827127502
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 187540
ClinVar RCV Id: RCV000167278 RCV000213869 RCV000464460 RCV000656950 RCV003491917 RCV003995577
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308939.1:p.Ile465Phe
CA010544
NM_001322010.2:c.1393A>T