Canonical Allele Identifier: PA2825383469
Gene: ATP6V1E1 HGNC NCBI
ClinVar RCV:
RCV000477698
ClinVar Variation:
417759
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034455.1:p.Leu106Pro
CA16616866
NM_001039366.1:c.317T>C