Allele Registry

Canonical Allele Identifier: PA916048593

Gene: BTD HGNC NCBI

ClinVar Allele:

452267

ClinVar RCV:

RCV000524591

RCV001578266

RCV002282207

ClinVar Variation:

458806

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Tyr434Cys	CA2277463 NM_001370658.1:c.1301A>G