ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827127516
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480367
ClinVar RCV Id:
RCV000568568
RCV004000896
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Gly468Glu
CA366739055
NM_001322010.2:c.1403G>A