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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:
PA2827757166
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283002
ClinVar RCV Id:
RCV000357729
RCV001718573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Ala420Asp
CA10604364
NM_001353949.2:c.1259C>A