ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826377170
Gene: ATP1A3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000493277
RCV001234039
ClinVar Variation:
430172
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243142.1:p.Val742Ile
CA406041894
NM_001256213.2:c.2224G>A