Allele Registry

Canonical Allele Identifier: PA2826592181

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000001977

RCV000078064

RCV002381235

ClinVar Variation:

1900

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268654.1:p.Asp424His	CA090886 NM_001281725.2:c.1270G>C