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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:
PA216460
Gene: SLC26A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64588
ClinVar RCV Id:
RCV000054775
RCV002496732
RCV003952478
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071325.2:p.Asp636Tyr
CA216459
NM_022042.4:c.1906G>T