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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:
PA916056848
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182981
ClinVar RCV Id:
RCV000161089
RCV000168429
RCV000294881
RCV000492422
RCV000781920
RCV003416030
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Pro2Leu
CA020518
NM_198156.3:c.5C>T