ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827112870
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1720867
ClinVar RCV Id:
RCV002300114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Val460Ile
CA366739875
NM_001322005.2:c.1378G>A