ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830379741
Gene: APTX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_778239.2:p.Pro206Leu
CA253142
NM_175069.3:c.617C>T