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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:
PA2826850155
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2747
ClinVar RCV Id:
RCV000002870
RCV001382239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287716.1:p.Ile145Thr
CA252411
NM_001300787.2:c.434T>C