ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827105929
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185424
ClinVar RCV Id:
RCV000164844
RCV000206128
RCV000433523
RCV000987833
RCV002485018
RCV001358227
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Arg292His
CA009478
NM_001322004.2:c.875G>A