ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827124433
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
492258
ClinVar RCV Id:
RCV000581535
RCV004002364
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308938.1:p.Pro389Leu
CA366741565
NM_001322009.2:c.1166C>T