ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827131283
Gene: PMS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Asp278His
CA16618498
NM_001322012.1:c.832G>C