ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499296363
Gene: ATP6V0A4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1018488
ClinVar RCV Id:
RCV001317795
RCV002493661
RCV003246874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570856.2:p.Lys824Arg
CA4504405
NM_130841.3:c.2471A>G