ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827116129
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
923770
ClinVar RCV Id:
RCV001184695
RCV002559871
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Val563Ile
CA366739619
NM_001322006.2:c.1687G>A