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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:
PA2827762588
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68615
ClinVar RCV Id:
RCV000059492
RCV000433130
RCV001854244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Thr112Ile
CA285126
NM_001353950.2:c.335C>T