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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:
PA2827923290
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3070688
ClinVar RCV Id:
RCV004013198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Leu1425Arg
CA352145457
NM_001354701.2:c.4274T>G