Allele Registry

Canonical Allele Identifier: PA2827196073

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000022028

RCV000078071

ClinVar Variation:

25103

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Asp523Glu	CA220321 NM_001323582.1:c.1569C>A CA351962595 NM_001323582.1:c.1569C>G