Canonical Allele Identifier: PA2827134207
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 455688
ClinVar RCV Id: RCV000554860 RCV000570475
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Leu532Phe
CA366737849
NM_001322013.1:c.1594C>T