ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827134199
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1786973
ClinVar RCV Id:
RCV002417916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Arg531Met
CA366737856
NM_001322013.1:c.1592G>T