ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827134066
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1047158
ClinVar RCV Id:
RCV001351834
RCV004036665
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Ile496Met
CA366738081
NM_001322013.1:c.1488A>G