ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828305214
Gene: APTX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2242001
ClinVar RCV Id:
RCV002724339
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355932.1:p.Pro166Leu
CA5022333
NM_001369003.1:c.497C>T