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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:
PA2825357750
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
422127
ClinVar RCV Id:
RCV000484885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035233.1:p.Arg102Gln
CA16617256
NM_001040143.2:c.305G>A