ClinGen Allele Registry
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Canonical Allele Identifier:
PA117289
Gene: ATP6V0A4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_570855.2:p.Gly820Arg
NM_130840.3:c.2458G>A
NM_130840.3:c.2458G>C