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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:
PA2826260000
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68545
ClinVar RCV Id:
RCV000059419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Tyr1462Cys
CA284964
NM_001202435.3:c.4385A>G