ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025491
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411083
ClinVar RCV Id:
RCV000561984
RCV000468998
RCV002289614
RCV004001884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Arg20Gly
CA050459
NM_001322014.1:c.58C>G