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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:
PA329431
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67459
ClinVar RCV Id:
RCV000058187
RCV001230350
RCV002433560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_742053.1:p.Arg100Trp