ClinGen Allele Registry
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Canonical Allele Identifier:
PA916025957
Gene: PMS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Arg563Gln
CA010042
NM_001322014.1:c.1688_1689delinsAG
CA010059
NM_001322014.1:c.1688G>A