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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:
PA2827926643
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
665608
ClinVar RCV Id:
RCV000823930
RCV002381882
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341652.1:p.Pro45Ala
CA351748071
NM_001354723.2:c.133C>G