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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:
PA2827921346
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67798
ClinVar RCV Id:
RCV000058572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Ser115Gly
CA017168
NM_001354701.2:c.343A>G