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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:
PA2825538818
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1484935
ClinVar RCV Id:
RCV002479666
RCV003170381
RCV003657589
RCV004011060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Val1202Met
CA72923192
NM_001099404.2:c.3604G>A