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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:
PA2826510949
Gene: TUBA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3236675
ClinVar RCV Id:
RCV004556135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257329.1:p.Tyr150His
CA384641811
NM_001270400.1:c.448T>C