ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827124185
Gene: PMS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Thr565Met
CA010720
NM_001322008.2:c.1694C>T