ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827125982
Gene: PMS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Val65Ile
CA012369
NM_001322010.2:c.193G>A