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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:
PA2827770993
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68533
ClinVar RCV Id:
RCV000059406
RCV000636387
RCV000188926
RCV001836729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Arg1234Gln
CA284931
NM_001353951.2:c.3701G>A