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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:
CA2556557543
Gene: VHL
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10141536_10141537insTG , CM000665.2:g.10141536_10141537insTG
GRCh38
NC_000003.11:g.10183220_10183221insTG , CM000665.1:g.10183220_10183221insTG
GRCh37
NC_000003.10:g.10158220_10158221insTG
NCBI36
NG_008212.3:g.4902_4903insTG , LRG_322:g.4902_4903insTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000256474.2:c.-312_-311insTG
ENSP00000256474.2:n.-312_-311insTG
Search 100 bp 5'
Search 100 bp 3'