ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827137192
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
455741
ClinVar RCV Id:
RCV000556803
RCV000564413
RCV000781740
RCV001568558
RCV004003768
RCV003338645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Cys149Tyr
CA051535
NM_001322015.1:c.446G>A