ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826199976
Gene: APTX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182178.1:p.Leu248Met
CA321194
NM_001195249.2:c.742T>A