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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:
PA2827778532
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2779481
ClinVar RCV Id:
RCV003753352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Thr217Ile
CA349074205
NM_001353955.2:c.650C>T