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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:
PA2826849843
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166746
ClinVar RCV Id:
RCV000723944
RCV001270355
RCV001262506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287715.1:p.Tyr224Cys
CA233532
NM_001300786.2:c.671A>G