ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827136398
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2823717
ClinVar RCV Id:
RCV003761054
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Leu664Val
CA366738924
NM_001322014.1:c.1990C>G