ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827119376
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002417489
RCV003098626
ClinVar Variation:
1786112
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Asp598Tyr
CA366737979
NM_001322007.2:c.1792G>T