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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:
PA2826260342
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189845
ClinVar RCV Id:
RCV000180799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Pro1668Arg
CA303095
NM_001202435.3:c.5003C>G