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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:
PA2827779971
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206808
ClinVar RCV Id:
RCV000188928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Val1246Ile
CA317395
NM_001353955.2:c.3736G>A