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: PA2827195730

Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 38298

ClinVar RCV Id: RCV000031859 RCV000078073 RCV002514126

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Ala151Thr	CA285305 NM_001323582.1:c.451G>A