ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825239353
Gene: ATP1A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000692.2:p.Pro600Arg
CA341771637
NM_000701.8:c.1799C>G