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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:
PA2580336335
Gene: SCN3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2016620
ClinVar RCV Id:
RCV002851665
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008853.3:p.Tyr1362Cys
CA349025625
NM_006922.4:c.4085A>G