ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827125689
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2193506
ClinVar RCV Id:
RCV002644014
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308938.1:p.Arg727Lys
CA366734810
NM_001322009.2:c.2180G>A