Allele Registry

Canonical Allele Identifier: PA2826591588

Gene: BTD HGNC NCBI

ClinVar Allele:

36343

ClinVar RCV:

RCV000021924

RCV000490188

RCV002513163

RCV003226165

ClinVar Variation:

25005

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268654.1:p.Arg128His	CA278201 NM_001281725.2:c.383G>A