Canonical Allele Identifier: PA2827101197
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 630905
ClinVar RCV Id: RCV000776924 RCV001211445
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308932.1:p.Ser488Asn
CA366739507
NM_001322003.2:c.1463G>A