ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253158
Gene: APTX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182179.1:p.Leu183Pro
CA253155
NM_001195250.1:c.548T>C