ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827128731
Gene: PMS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308940.1:p.Arg116His
CA009478
NM_001322011.2:c.347G>A