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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:
PA2827780852
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2010295
ClinVar RCV Id:
RCV002850993
RCV003326639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Ser1748Pro
CA349068302
NM_001353955.2:c.5242T>C