Canonical Allele Identifier: PA2827130166
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91340
ClinVar RCV Id: RCV000162455 RCV000215298 RCV000524466 RCV000590372 RCV000764720 RCV003153358
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308940.1:p.Arg488Trp
CA011412
NM_001322011.2:c.1462C>T