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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:
PA2827758244
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372566
ClinVar RCV Id:
RCV000413258
RCV000696398
RCV002248644
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Arg854Gln
CA16042360
NM_001353949.2:c.2561G>A