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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:
PA2827754865
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1066554
ClinVar RCV Id:
RCV001377574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Asp1742Asn
CA1942685
NM_001353948.2:c.5224G>A