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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:
PA2827760117
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
408936
ClinVar RCV Id:
RCV000472521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Leu1412Val
CA16610151
NM_001353949.2:c.4234C>G