ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827115160
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2734969
ClinVar RCV Id:
RCV003595603
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Arg315Leu
CA366743144
NM_001322006.2:c.944G>T