ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828784366
Gene: ATP6V0A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365481.1:p.Arg700His
CA8576455
NM_001378552.1:c.2099G>A