ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645467805
Gene: ATP6V1E1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
417759
ClinVar RCV Id:
RCV000477698
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001687.1:p.Leu128Pro
CA16616866
NM_001696.4:c.383T>C