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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:
PA100896
Gene: ATP1A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12909
ClinVar RCV Id:
RCV000013772
RCV000726724
RCV001004717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689509.1:p.Thr613Met
CA341233
NM_152296.5:c.1838C>T