ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA346003
Gene: ATP1A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689509.1:p.Leu327del
CA346002
NM_152296.5:c.979_981del