Allele Registry

Canonical Allele Identifier: PA916048617

Gene: BTD HGNC NCBI

ClinVar Allele:

432549

ClinVar RCV:

RCV000506930

RCV001315219

ClinVar Variation:

439035

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Arg518Leu	CA351962560 NM_001370658.1:c.1553G>T