ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139697193
Gene: APTX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182181.2:p.His94Tyr
CA5022392
NM_001195252.2:c.280C>T