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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:
PA2826591371
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2057329
ClinVar RCV Id:
RCV002923302
RCV002923301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268653.2:p.Ala513Val
CA2277500
NM_001281724.3:c.1538C>T