ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827117009
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233764
ClinVar RCV Id:
RCV000214514
RCV001800578
RCV002516158
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Thr797Ile
CA10578635
NM_001322006.2:c.2390C>T