×
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:
PA2826822618
Gene: GUSB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
897
ClinVar RCV Id:
RCV000000945
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280034.1:p.Arg392Trp
CA339841
NM_001293105.2:c.1174C>T