Allele Registry

Canonical Allele Identifier: PA916048578

Gene: BTD HGNC NCBI

ClinVar Allele:

406135

ClinVar RCV:

RCV000483848

RCV000675109

ClinVar Variation:

422496

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Glu416Lys	CA2277452 NM_001370658.1:c.1246G>A