ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828304743
Gene: APTX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355928.1:p.Arg13Gln
CA5022668
NM_001368999.1:c.38G>A