ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827103624
Gene: PMS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Arg64Cys
CA012356
NM_001322004.2:c.190C>T