Canonical Allele Identifier: PA2827113135
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_001308934.1:p.Ser534Arg
CA366738200
NM_001322005.2:c.1602T>G
CA366738201
NM_001322005.2:c.1602T>A
CA366738852
NM_001322005.2:c.1600A>C