ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828304356
Gene: APTX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290957
ClinVar RCV Id:
RCV000324352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355924.1:p.Pro330His
CA10606959
NM_001368995.1:c.989C>A