ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827128534
Gene: PMS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308940.1:p.Gln64del
CA913189369
NM_001322011.2:c.191_193del