Allele Registry

Canonical Allele Identifier: PA2826591470

Gene: BTD HGNC NCBI

ClinVar Allele:

46851

ClinVar RCV:

RCV000021905

RCV003125847

RCV003993755

ClinVar Variation:

38567

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268654.1:p.Arg59His	CA278166 NM_001281725.2:c.176G>A