ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827127420
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_001308939.1:p.Arg441Gln
CA010408
NM_001322010.2:c.1322G>A