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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:
PA916036681
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93645
ClinVar RCV Id:
RCV000079577
RCV000701047
RCV003155068
RCV002345392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Phe445Ser
CA285448
NM_001353961.2:c.1334T>C