ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827111359
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1709656
ClinVar RCV Id:
RCV002289471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Pro78Leu
CA366743934
NM_001322005.2:c.233C>T