ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827125176
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
654604
ClinVar RCV Id:
RCV000810603
RCV003467442
RCV002424900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308938.1:p.Arg587Gly
CA366737858
NM_001322009.2:c.1759A>G