ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827135876
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002297839
ClinVar Variation:
1717840
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Val380Ile
CA366742730
NM_001322014.1:c.1138G>A