ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827138624
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
640968
ClinVar RCV Id:
RCV000794109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Ser518Cys
CA366739536
NM_001322015.1:c.1553C>G