ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827119029
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001981285
RCV002407258
ClinVar Variation:
1492854
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Lys504Gln
CA366739697
NM_001322007.2:c.1510A>C