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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:
PA2825098606
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
526915
ClinVar RCV Id:
RCV000631566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.His309Tyr
CA369861935
NM_000238.4:c.925C>T