Allele Registry

Canonical Allele Identifier: PA2826590606

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000021904

RCV000078072

ClinVar Variation:

38290

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268653.2:p.Arg137His	CA220323 NM_001281724.3:c.410G>A