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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:
PA2827768109
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2762703
ClinVar RCV Id:
RCV003590314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Val1773Leu
CA349068046
NM_001353950.2:c.5317G>C