ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827137099
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
659762
ClinVar RCV Id:
RCV000816815
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Val127Glu
CA366743842
NM_001322015.1:c.380T>A