ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827127000
Gene: PMS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Ala333Val
CA009861
NM_001322010.2:c.998C>T