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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:
PA2826259108
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12883
ClinVar RCV Id:
RCV000013743
RCV000059471
RCV000686817
RCV001253103
RCV001311218
RCV002316193
RCV004554602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Thr875Met
CA256587
NM_001202435.3:c.2624C>T