ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827101641
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237897
ClinVar RCV Id:
RCV000226952
RCV002417997
RCV002509327
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Ile543Leu
CA10582500
NM_001322003.2:c.1627A>C