Canonical Allele Identifier: PA2827127229
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 216455
ClinVar RCV Id: RCV000199546 RCV000218135 RCV001544673 RCV003462329 RCV003491945 RCV003320596
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308939.1:p.Arg391His
CA045451
NM_001322010.2:c.1172G>A