ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827127647
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1785480
ClinVar RCV Id:
RCV002422229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Glu506Lys
CA366738051
NM_001322010.2:c.1516G>A