ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA299849
Gene: PMS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.1:p.Glu81Lys
CA011475
NM_000535.5:c.241G>A