ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827135143
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002043847
ClinVar Variation:
1520032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Pro167Ala
CA366744231
NM_001322014.1:c.499C>G