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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:
PA2826666297
Gene: KCTD17
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191372
ClinVar RCV Id:
RCV000171554
RCV001092006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269613.2:p.Arg138His
CA199778
NM_001282684.2:c.413G>A