ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827099483
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237883
ClinVar RCV Id:
RCV001373311
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Lys303Gln
CA10582512
NM_001322003.2:c.907A>C