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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:
PA2825190489
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
940981
ClinVar RCV Id:
RCV001210678
RCV002356899
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000542.1:p.Val13Ala
CA351747150
NM_000551.4:c.38T>C