ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827120455
Gene: PMS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Ala466Val
CA010152
NM_001322008.2:c.1397C>T