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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:
PA2826275253
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67341
ClinVar RCV Id:
RCV000058060
RCV000181830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Met305Val
CA006050
NM_001204798.2:c.913A>G