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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:
PA2825945030
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67880
ClinVar RCV Id:
RCV000058660
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Pro1384Leu
CA018135
NM_001160161.2:c.4151C>T