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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:
PA2827778288
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2692373
ClinVar RCV Id:
RCV003494564
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Gly58Val
CA349242938
NM_001353955.2:c.173G>T