Allele Registry

Canonical Allele Identifier: PA916048570

Gene: BTD HGNC NCBI

ClinVar Allele:

36405

ClinVar RCV:

RCV000021994

ClinVar Variation:

25069

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Cys398Arg	CA278305 NM_001370658.1:c.1192T>C