ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827112019
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
822225
ClinVar RCV Id:
RCV001017405
RCV001873294
RCV003461361
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Leu242Pro
CA366742744
NM_001322005.2:c.725T>C