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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:
PA2827761184
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1057139
ClinVar RCV Id:
RCV001366069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Tyr1683Asp
CA349069335
NM_001353949.2:c.5047T>G