ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827101118
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1781162
ClinVar RCV Id:
RCV002412849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Lys479Thr
CA366739634
NM_001322003.2:c.1436A>C