Allele Registry

Canonical Allele Identifier: PA2826591234

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000524591

RCV001578266

RCV002282207

ClinVar Variation:

458806

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268653.2:p.Tyr434Cys	CA2277463 NM_001281724.3:c.1301A>G