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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:
PA2829676506
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2813384
ClinVar RCV Id:
RCV003754165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Ile1771Val
CA349068080
NM_006920.6:c.5311A>G