ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827103812
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1718113
ClinVar RCV Id:
RCV002299605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Pro78Ser
CA366743937
NM_001322004.2:c.232C>T