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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:
CA1345064083
Gene: VHL
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10141548_10141549delinsAC , CM000665.2:g.10141548_10141549delinsAC
GRCh38
NC_000003.11:g.10183232_10183233delinsAC , CM000665.1:g.10183232_10183233delinsAC
GRCh37
NC_000003.10:g.10158232_10158233delinsAC
NCBI36
NG_008212.3:g.4914_4915delinsAC , LRG_322:g.4914_4915delinsAC
Transcript Alleles
HGVS
Amino-acid change
ENST00000256474.2:c.-300_-299delinsAC
ENSP00000256474.2:n.-300_-299delinsAC
Search 100 bp 5'
Search 100 bp 3'