ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827139000
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411039
ClinVar RCV Id:
RCV002429536
RCV002230432
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Ile621Thr
CA16612383
NM_001322015.1:c.1862T>C