ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827098953
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1038692
ClinVar RCV Id:
RCV001342032
RCV003169633
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Leu243Pro
CA366742740
NM_001322003.2:c.728T>C