ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA345083
Gene: ATP1A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65759
ClinVar RCV Id:
RCV000055992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689509.1:p.Ser684Phe
CA345082
NM_152296.5:c.2051C>T