ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA117287
Gene: ATP6V0A4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_065683.2:p.Gln753Ter
NM_020632.3:c.2257C>T