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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:
PA645402583
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423370
ClinVar RCV Id:
RCV000481610
RCV001262228
RCV001851250
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Leu117Pro
CA16617318
NM_006920.6:c.350T>C