ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830295479
Gene: ATP1A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
976730
ClinVar RCV Id:
RCV001254116
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689509.1:p.Thr771Ile
CA308586633
NM_152296.5:c.2312C>T