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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:
PA092178
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99763
ClinVar RCV Id:
RCV000086181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004174.1:p.Asn296His
CA227833
NM_004183.3:c.886A>C