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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:
PA2829483196
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2152114
ClinVar RCV Id:
RCV003061583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004174.1:p.Val143Ala
CA380835254
NM_004183.3:c.428T>C