ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827131552
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1321000
ClinVar RCV Id:
RCV001776979
RCV002541084
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Glu352Lys
CA366738940
NM_001322012.1:c.1054G>A