Allele Registry

Canonical Allele Identifier: PA278188

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000021916

RCV000759006

ClinVar Variation:

24997

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Glu112Gln	CA278187 NM_000060.4:c.334G>C