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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:
PA2827776052
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1045626
ClinVar RCV Id:
RCV001350071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.His552Tyr
CA349068240
NM_001353954.2:c.1654C>T