ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827114333
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219749
ClinVar RCV Id:
RCV002256113
RCV001295601
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Leu111Val
CA348419
NM_001322006.2:c.331C>G