ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026405
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486930
ClinVar RCV Id:
RCV000570992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Gln58Arg
CA366744265
NM_001322015.1:c.173A>G