ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827098847
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1503492
ClinVar RCV Id:
RCV002045440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Asp231Gly
CA366742814
NM_001322003.2:c.692A>G