Allele Registry

Canonical Allele Identifier: PA2826592442

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000021905

RCV003125847

RCV003993755

ClinVar Variation:

38567

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268655.2:p.Arg59His	CA278166 NM_001281726.2:c.176G>A