×
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:
PA2826761403
Gene: TUBB4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50985
ClinVar RCV Id:
RCV000043681
RCV000255689
RCV001249621
RCV001814029
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001276060.1:p.Asp177Asn
CA143913
NM_001289131.2:c.529G>A