ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830185483
Gene: ATP6V0A4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570855.2:p.Lys540Glu
CA369379803
NM_130840.3:c.1618A>G