ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026415
Gene: PMS2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001308944.1:p.Arg66Cys
NM_001322015.1:c.196C>T