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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:
PA2826028033
Gene: TBXAS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2150262
ClinVar RCV Id:
RCV003067480
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159725.2:p.Arg321Trp
CA4511828
NM_001166253.4:c.961C>T