ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827115322
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1819069
ClinVar RCV:
RCV002365155
ClinVar Variation:
1757064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Lys361dup
CA4150118
NM_001322006.2:c.1081_1083dup