ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827114553
Gene: PMS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Arg169His
CA012229
NM_001322006.2:c.506G>A