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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:
PA2826014009
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
998292
ClinVar RCV Id:
RCV001294080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Tyr1781His
CA349067647
NM_001165964.3:c.5341T>C