×
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:
PA2826510158
Gene: TUBA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
625481
ClinVar RCV Id:
RCV000767425
RCV003558566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257328.1:p.Cys25Phe
CA384645769
NM_001270399.2:c.74G>T