ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916008822
Gene: ATP1A3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000493714
RCV001060259
ClinVar Variation:
429300
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243143.1:p.Leu339Arg
CA406052127
NM_001256214.2:c.1016T>G