ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828784458
Gene: ATP6V0A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365486.1:p.Tyr372Cys
CA8576243
NM_001378557.1:c.1115A>G