ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025841
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237886
ClinVar RCV Id:
RCV000227437
RCV000479471
RCV000570329
RCV002288911
RCV003998786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Thr485Met
CA043685
NM_001322014.1:c.1454C>T