ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825383535
Gene: ATP6V1E1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001034456.1:p.Arg182Trp
CA16616867
NM_001039367.1:c.544C>T