ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827138800
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
234906
ClinVar RCV Id:
RCV000214621
RCV001211374
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Thr568Arg
CA10577337
NM_001322015.1:c.1703C>G