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: PA2828448818

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_001357681.1:p.Ala151Thr	CA082710 NM_001370752.1:c.[451G>A;1015+255G>C] CA285305 NM_001370752.1:c.451G>A