ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827135329
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1753213
ClinVar RCV Id:
RCV002354091
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Pro213His
CA366743936
NM_001322014.1:c.638C>A