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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
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Canonical Allele Identifier:
CA1345064225
Gene: VHL
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10141633_10141638delinsAGCCTC , CM000665.2:g.10141633_10141638delinsAGCCTC
GRCh38
NC_000003.11:g.10183317_10183322delinsAGCCTC , CM000665.1:g.10183317_10183322delinsAGCCTC
GRCh37
NC_000003.10:g.10158317_10158322delinsAGCCTC
NCBI36
NG_008212.3:g.4999_5004delinsAGCCTC , LRG_322:g.4999_5004delinsAGCCTC
Transcript Alleles
HGVS
Amino-acid change
ENST00000256474.2:c.-215_-210delinsAGCCTC
ENSP00000256474.2:n.-215_-210delinsAGCCTC
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