ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827120064
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
847830
ClinVar RCV Id:
RCV001051458
RCV002348399
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Asn70Ile
CA366744168
NM_001322008.2:c.209A>T