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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:
PA645443684
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427076
ClinVar RCV Id:
RCV000490005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Gly657Val
CA369857738
NM_172056.2:c.1970G>T