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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:
PA317301
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206784
ClinVar RCV Id:
RCV000188892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Val846Ile
CA317299
NM_006920.6:c.2536G>A