ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827122319
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1318481
ClinVar RCV Id:
RCV001753256
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Lys263Arg
CA366742794
NM_001322008.2:c.788A>G