Canonical Allele Identifier: PA2827126992
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 216451
ClinVar RCV Id: RCV000199090 RCV000221963 RCV000486619 RCV000780620 RCV000987826
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308939.1:p.Tyr332His
CA044339
NM_001322010.2:c.994T>C