Canonical Allele Identifier: PA2827136504
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2841059
ClinVar RCV Id: RCV003758444
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Val717Leu
CA366737886
NM_001322014.1:c.2149G>T
CA366737887
NM_001322014.1:c.2149G>C