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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:
PA2826259934
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1403815
ClinVar RCV Id:
RCV001901322
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Ala1429Val
CA349049642
NM_001202435.3:c.4286C>T