ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827108067
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486055
ClinVar RCV Id:
RCV000570900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Glu505Gln
CA366739263
NM_001322004.2:c.1513G>C