ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827114354
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2919803
ClinVar RCV Id:
RCV003761165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Cys115Gly
CA366744543
NM_001322006.2:c.343T>G