ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253143
Gene: APTX
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_778243.1:p.Pro206Leu
NM_175073.3:c.617C>T