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: PA2826590078

Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 439033

ClinVar RCV Id: RCV000508096

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268652.2:p.Phe383Cys	CA351608318 NM_001281723.3:c.1148T>G