Allele Registry

Canonical Allele Identifier: PA2826590117

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000021996

ClinVar Variation:

25071

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268652.2:p.Cys398Ser	CA278309 NM_001281723.3:c.1193G>C CA351608402 NM_001281723.3:c.1192T>A