ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827127704
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
91328
ClinVar RCV Id:
RCV000076843
RCV000144654
RCV000115674
RCV000223542
RCV000524457
RCV002298464
RCV003149756
RCV003452990
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Glu518Lys
CA010854
NM_001322010.2:c.1552G>A