ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827133958
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231057
ClinVar RCV Id:
RCV000215176
RCV001244380
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Glu465Lys
CA10578657
NM_001322013.1:c.1393G>A