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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:
PA317500
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206838
ClinVar RCV Id:
RCV000188963
RCV000818881
RCV001254862
RCV002517889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Pro1519Thr
CA317497
NM_001165963.4:c.4555C>A