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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:
PA097859
Gene: GJB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245904
ClinVar RCV Id:
RCV000236069
RCV000698707
RCV000789056
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000157.1:p.His126Tyr
CA10584639
NM_000166.6:c.376C>T