ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827129717
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1785065
ClinVar RCV Id:
RCV002421814
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308940.1:p.Leu373Met
CA366738105
NM_001322011.2:c.1117C>A