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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:
PA2827770914
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68530
ClinVar RCV Id:
RCV000059403
RCV000818870
RCV002054912
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Leu1196Pro
CA284925
NM_001353951.2:c.3587T>C