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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:
PA2742021036
Gene: KCNH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2998350
ClinVar RCV Id:
RCV003857013
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_758872.1:p.Thr412Ala
CA344873479
NM_172362.3:c.1234A>G