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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:
PA645477879
Gene: TUBA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381537
ClinVar RCV Id:
RCV000425962
RCV000767421
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006000.2:p.Glu27Gln
CA16606296
NM_006009.4:c.79G>C