ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916060245
Gene: ATP6V0A4
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_570856.2:p.Pro524Leu
NM_130841.3:c.1571C>T