ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025602
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
525770
ClinVar RCV Id:
RCV000630049
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Gln100Glu
CA366744632
NM_001322014.1:c.298C>G