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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:
PA2825941873
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1098787
ClinVar RCV Id:
RCV001420834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Arg1315Pro
CA352148090
NM_001160160.2:c.3944G>C