ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827133029
Gene: PMS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Ile226Leu
CA16612223
NM_001322013.1:c.676A>C