ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825736674
Gene: ATP6V0A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123492.1:p.Val775Met
CA8576616
NM_001130020.3:c.2323G>A