ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825189974
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1332250
ClinVar RCV Id:
RCV001805296
RCV002541426
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Arg175Gly
CA366744180
NM_000535.7:c.523A>G