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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:
PA2825492841
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67630
ClinVar RCV Id:
RCV000058386
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Gly351Val
CA014246
NM_001099405.2:c.1052G>T