ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828783456
Gene: ATP6V0A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365452.1:p.Val739Met
CA8576616
NM_001378523.1:c.2215G>A