Allele Registry

Canonical Allele Identifier: PA2827195675

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000021916

RCV000759006

ClinVar Variation:

24997

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Glu92Gln	CA278187 NM_001323582.1:c.274G>C