ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827117723
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141523
ClinVar RCV Id:
RCV000130089
RCV000411073
RCV000486746
RCV001079273
RCV002265615
RCV003997548
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Gln169Glu
CA012928
NM_001322007.2:c.505C>G