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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:
PA2825941658
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2120763
ClinVar RCV Id:
RCV003658693
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Arg1174Gly
CA352138282
NM_001160160.2:c.3520C>G