ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826224800
Gene: ATP6V0C
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001185498.1:p.Ala95Thr
CA394387989
NM_001198569.2:c.283G>A