×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499303362
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1017783
ClinVar RCV Id:
RCV001316987
RCV001569177
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Gly14Ser
CA351747168
NM_198156.3:c.40G>A