ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828305085
Gene: APTX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355931.1:p.His78Tyr
CA5022392
NM_001369002.1:c.232C>T