ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827131459
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231053
ClinVar RCV Id:
RCV002229234
RCV000221721
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Ala325Thr
CA10578660
NM_001322012.1:c.973G>A