ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA313355
Gene: ATP6AP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005756.2:p.Val164Ile
CA313354
NM_005765.2:c.490G>A