ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827114067
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1762820
ClinVar RCV Id:
RCV002430331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Leu42Ser
CA366745017
NM_001322006.2:c.125T>C