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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:
PA092454
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99762
ClinVar RCV Id:
RCV000086180
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004174.1:p.Ile295Thr
CA227832
NM_004183.3:c.884T>C