ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827101237
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127767
ClinVar RCV Id:
RCV000115667
RCV000214212
RCV000559426
RCV001420821
RCV003997287
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Arg493Gln
CA010408
NM_001322003.2:c.1478G>A