ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827114906
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_001308935.1:p.Cys252Tyr
CA051535
NM_001322006.2:c.755G>A