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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:
PA2825942871
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3072854
ClinVar RCV Id:
RCV004013876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Ile1935Asn
CA064976
NM_001160160.2:c.5804T>A