Allele Registry

Canonical Allele Identifier: PA220324

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000021904

RCV000078072

ClinVar Variation:

38290

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Arg157His	CA220323 NM_000060.4:c.470G>A