Allele Registry

Canonical Allele Identifier: PA2827195767

Gene: BTD HGNC NCBI

ClinVar Allele:

36366

ClinVar RCV:

RCV000021951

RCV000078077

ClinVar Variation:

25029

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Arg191His	CA220331 NM_001323582.1:c.572G>A