ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828446817
Gene: APTX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286950
ClinVar RCV Id:
RCV000351313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357599.1:p.Arg230His
CA5022242
NM_001370670.1:c.689G>A