ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826200087
Gene: APTX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214121
ClinVar RCV Id:
RCV000195599
RCV003765258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182179.2:p.Arg191His
CA319960
NM_001195250.2:c.572G>A