ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253151
Gene: APTX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_778239.1:p.His215Arg
NM_175069.2:c.644A>G