ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827123952
Gene: PMS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308938.1:p.Met318Val
CA009542
NM_001322009.2:c.952A>G