ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915972881
Gene: ATP6V0A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123492.1:p.Arg454Gln
CA399592911
NM_001130020.3:c.1361G>A