ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826376972
Gene: ATP1A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000559746
ClinVar Variation:
468594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243142.1:p.Arg474His
CA9467654
NM_001256213.2:c.1421G>A