ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829589079
Gene: ATP6V0A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005168.2:p.Ala505Pro
CA399594217
NM_005177.5:c.1513G>C