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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:
CA2755191067
Gene: VHL
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10141550_10141557del , CM000665.2:g.10141550_10141557del
GRCh38
NC_000003.11:g.10183234_10183241del , CM000665.1:g.10183234_10183241del
GRCh37
NC_000003.10:g.10158234_10158241del
NCBI36
NG_008212.3:g.4916_4923del , LRG_322:g.4916_4923del
Transcript Alleles
HGVS
Amino-acid change
ENST00000256474.2:c.-298_-291del
ENSP00000256474.2:n.-298_-291del
Search 100 bp 5'
Search 100 bp 3'