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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:
PA2827753830
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12893
ClinVar RCV Id:
RCV000013753
RCV003992152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Gln1489Lys
CA256608
NM_001353948.2:c.4465C>A