ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA249414
Gene: ATP1A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218558
ClinVar RCV Id:
RCV000203207
RCV001808560
RCV003765310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689509.1:p.Pro323Ser
CA249413
NM_152296.5:c.967C>T