Canonical Allele Identifier: PA2827108195
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_001308933.1:p.Ile517Phe
CA010544
NM_001322004.2:c.1549A>T