ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499242950
Gene: ATP1A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1038703
ClinVar RCV Id:
RCV001342044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243143.1:p.Glu566Lys
CA406046060
NM_001256214.2:c.1696G>A