Allele Registry

Canonical Allele Identifier: PA2827195782

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000185805

RCV003473119

ClinVar Variation:

25035

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Asp208Tyr	CA278249 NM_001323582.1:c.622G>T