Allele Registry

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.

Canonical Allele Identifier: PA2826591242

Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 92398

ClinVar RCV Id: RCV000078066 RCV002514373 RCV002514372

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268653.2:p.Val437Ala	CA220315 NM_001281724.3:c.1310T>C