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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:
PA2825479679
Gene: SCN3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1309236
ClinVar RCV Id:
RCV001765405
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075145.1:p.Val1280Gly
CA349026038
NM_001081676.2:c.3839T>G