Allele Registry

Canonical Allele Identifier: PA2826590133

Gene: BTD HGNC NCBI

ClinVar Allele:

36411

ClinVar RCV:

RCV000022000

RCV000493447

ClinVar Variation:

25075

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268652.2:p.Cys404Tyr	CA278316 NM_001281723.3:c.1211G>A