Allele Registry

Canonical Allele Identifier: PA2826590658

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000021940

RCV000790752

ClinVar Variation:

25020

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268653.2:p.Cys166Tyr	CA220327 NM_001281724.3:c.497G>A