ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827138046
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141541
ClinVar RCV Id:
RCV000130112
RCV000482982
RCV001059940
RCV003997551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Val372Glu
CA009659
NM_001322015.1:c.1115T>A