Allele Registry

Canonical Allele Identifier: PA2826590517

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000021916

RCV000759006

ClinVar Variation:

24997

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268653.2:p.Glu92Gln	CA278187 NM_001281724.3:c.274G>C