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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:
PA265316
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67817
ClinVar RCV Id:
RCV000058592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Leu1239Pro
CA017455
NM_198056.3:c.3716T>C