ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826200398
Gene: APTX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2230216
ClinVar RCV Id:
RCV002717498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182183.1:p.Ser158Ile
CA373177338
NM_001195254.2:c.473G>T