ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827120781
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
643089
ClinVar RCV Id:
RCV000796712
RCV001354672
RCV002422712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Ile591Thr
CA366738017
NM_001322008.2:c.1772T>C