ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827126026
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2702385
ClinVar RCV Id:
RCV003594938
RCV004017993
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Val79Ala
CA366743930
NM_001322010.2:c.236T>C