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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:
CA1345064229
Gene: VHL
HGNC
NCBI
Linked Data
dbSNP Id:
rs1696101996
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10141638_10141657del , CM000665.2:g.10141638_10141657del
GRCh38
NC_000003.11:g.10183322_10183341del , CM000665.1:g.10183322_10183341del
GRCh37
NC_000003.10:g.10158322_10158341del
NCBI36
NG_008212.3:g.5004_5023del , LRG_322:g.5004_5023del
Transcript Alleles
HGVS
Amino-acid change
ENST00000256474.2:c.-210_-191del
ENSP00000256474.2:n.-210_-191del
Search 100 bp 5'
Search 100 bp 3'