ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827102042
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
575547
ClinVar RCV Id:
RCV000697793
RCV001014609
RCV002508250
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Leu583Pro
CA046753
NM_001322003.2:c.1748T>C