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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:
PA2828098301
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1452856
ClinVar RCV Id:
RCV001994660
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350520.1:p.Val37Phe
CA380835245
NM_001363591.2:c.109G>T