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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:
PA915966105
Gene: SLC26A4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
691510
ClinVar RCV Id:
RCV001004631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000432.1:p.Thr307Ala
CA368835575
NM_000441.2:c.919A>G