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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:
PA317802
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1327140
ClinVar RCV Id:
RCV001787423
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Leu61Pro
CA317800
NM_001165963.4:c.182T>C