Allele Registry

Canonical Allele Identifier: PA2826590631

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000031859

RCV000078073

RCV002514126

ClinVar Variation:

38298

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268653.2:p.Ala151Thr	CA285305 NM_001281724.3:c.451G>A