Allele Registry

Canonical Allele Identifier: PA916048616

Gene: BTD HGNC NCBI

ClinVar Allele:

200042

ClinVar RCV:

RCV000409281

RCV000623390

ClinVar Variation:

203642

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Arg518Ser	CA312375 NM_001370658.1:c.1552C>A