Allele Registry

Canonical Allele Identifier: PA2827196067

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000022024

ClinVar Variation:

25099

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Arg518His	CA278356 NM_001323582.1:c.1553G>A