Canonical Allele Identifier: PA2827116319
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 455678
ClinVar RCV Id: RCV000540101
ClinVar Variation Id: 1784347
ClinVar RCV Id: RCV002417284
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Ser617Arg
CA366738200
NM_001322006.2:c.1851T>G
CA366738201
NM_001322006.2:c.1851T>A
CA366738852
NM_001322006.2:c.1849A>C