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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:
PA2827754388
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12882
ClinVar RCV Id:
RCV000013742
RCV000059521
RCV000484119
RCV001040793
RCV001192959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Arg1648His
CA256584
NM_001353948.2:c.4943G>A