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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:
PA2827762895
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68576
ClinVar RCV Id:
RCV000059452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Thr199Arg
CA285036
NM_001353950.2:c.596C>G