ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830379748
Gene: APTX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_778239.2:p.Leu223Pro
CA253155
NM_175069.3:c.668T>C