Allele Registry

Canonical Allele Identifier: PA2827195932

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000501861

RCV000727665

ClinVar Variation:

143949

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Phe383Val	CA312373 NM_001323582.1:c.1147T>G