ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827110448
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
455704
ClinVar RCV Id:
RCV000571991
RCV000553752
RCV001576970
RCV003459183
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.His717Tyr
CA048839
NM_001322004.2:c.2149C>T