ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828783479
Gene: ATP6V0A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365459.1:p.Arg488Gln
CA399592911
NM_001378530.1:c.1463G>A