ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580212254
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1698024
ClinVar RCV Id:
RCV002269447
RCV002427746
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Thr89Ala
CA366744703
NM_001322014.1:c.265A>G