ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827138082
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
240119
ClinVar RCV:
RCV000227437
RCV000479471
RCV000570329
RCV002288911
RCV003998786
ClinVar Variation:
237886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Thr382Met
CA043685
NM_001322015.1:c.1145C>T