ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827134050
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1784962
ClinVar RCV Id:
RCV002419991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Phe491Cys
CA366738114
NM_001322013.1:c.1472T>G