ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830295547
Gene: ATP1A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
813739
ClinVar RCV Id:
RCV001004671
RCV001585916
RCV002274115
RCV003626655
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689509.1:p.Ala813Val
CA406038997
NM_152296.5:c.2438C>T