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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:
PA2827760963
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206854
ClinVar RCV Id:
RCV000188988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Arg1637Leu
CA317561
NM_001353949.2:c.4910G>T