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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:
PA2825943025
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67628
ClinVar RCV Id:
RCV000058384
RCV002281902
RCV001569891
RCV001841769
RCV004019029
RCV004528263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Gly35Ser
CA014210
NM_001160161.2:c.103G>A