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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:
PA645449133
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
253283
ClinVar RCV Id:
RCV000239754
RCV001218534
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Thr668Ile
CA6571404
NM_014191.4:c.2003C>T