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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:
PA2827785562
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372977
ClinVar RCV Id:
RCV000413641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Leu953Ile
CA16042438
NM_001353958.2:c.2857C>A