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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830294900
Gene: ATP1A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1509153
ClinVar RCV Id:
RCV002017694
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689509.1:p.Gly325Arg
CA406052146
NM_152296.5:c.973G>C