ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828304911
Gene: APTX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355929.1:p.Leu169Pro
CA253155
NM_001369000.1:c.506T>C