Allele Registry

Canonical Allele Identifier: PA220322

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000022028

RCV000078071

ClinVar Variation:

25103

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Asp543Glu	CA220321 NM_000060.4:c.1629C>A CA351962595 NM_000060.4:c.1629C>G