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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:
PA2828473339
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196039
ClinVar RCV Id:
RCV000176763
RCV000189181
RCV000417008
RCV001265414
RCV001849328
RCV001847815
RCV002516714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358175.1:p.Arg1882Gln
CA202100
NM_001371246.1:c.5645G>A