ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913201767
Gene: APTX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182177.1:p.Pro344His
CA10606959
NM_001195248.1:c.1031C>A