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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:
CA896157360
Gene: VHL
HGNC
NCBI
Linked Data
dbSNP Id:
rs1277125225
gnomAD v3:
3-10141633-AGCCTC-A
gnomAD v4:
3-10141633-AGCCTC-A
MyVariant Identifiers:
chr3:g.10183318_10183322del (hg19)
chr3:g.10141634_10141638del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10141639_10141643del , CM000665.2:g.10141639_10141643del
GRCh38
NC_000003.11:g.10183323_10183327del , CM000665.1:g.10183323_10183327del
GRCh37
NC_000003.10:g.10158323_10158327del
NCBI36
NG_008212.3:g.5005_5009del , LRG_322:g.5005_5009del
Transcript Alleles
HGVS
Amino-acid change
ENST00000256474.2:c.-209_-205del
ENSP00000256474.2:n.-209_-205del
Search 100 bp 5'
Search 100 bp 3'