Allele Registry

Canonical Allele Identifier: PA2827195702

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000414058

RCV000675064

ClinVar Variation:

373539

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Arg128Cys	CA2277309 NM_001323582.1:c.382C>T