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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:
PA2825557092
Gene: GJB6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5543
ClinVar RCV Id:
RCV000088666
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001103691.1:p.Thr5Met
CA267609
NM_001110221.3:c.14C>T