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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:
PA305685
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67005
ClinVar RCV Id:
RCV000057527
RCV000182145
RCV002513746
RCV003333023
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Ala341Gly
CA004889
NM_000218.3:c.1022C>G