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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:
CA2499387211
Gene: VHL
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10141752del , CM000665.2:g.10141752del
GRCh38
NC_000003.11:g.10183436del , CM000665.1:g.10183436del
GRCh37
NC_000003.10:g.10158436del
NCBI36
NG_008212.3:g.5118del , LRG_322:g.5118del
Transcript Alleles
HGVS
Amino-acid change
ENST00000256474.2:c.-96del
ENSP00000256474.2:n.-96del
NM_000551.3:c.-96del , LRG_322t1:c.-96del
NP_000542.1:n.-96del
NM_198156.2:c.-96del
NP_937799.1:n.-96del
NM_001354723.1:c.-96del
NP_001341652.1:n.-96del
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