ClinGen Allele Registry
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Canonical Allele Identifier:
PA916026099
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
190109
ClinVar RCV:
RCV000172908
RCV000630142
RCV001179765
RCV001284205
RCV001804905
RCV003454446
ClinVar Variation:
192316
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Ile668Val
CA358701
NM_001322014.1:c.2002A>G