ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3073758398
Gene: ATP6V0A4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065683.2:p.Ile522Phe
CA369370195
NM_020632.3:c.1564A>T