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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:
PA2825538769
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2774457
ClinVar RCV Id:
RCV003592340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Pro1164Thr
CA352138363
NM_001099404.2:c.3490C>A