Allele Registry

Canonical Allele Identifier: PA2828445767

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000021916

RCV000759006

ClinVar Variation:

24997

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Glu92Gln	CA278187 NM_001370658.1:c.274G>C