ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825736697
Gene: ATP6V0A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123493.1:p.Arg447Gln
CA399592911
NM_001130021.3:c.1340G>A