Allele Registry

Canonical Allele Identifier: PA2827196068

Gene: BTD HGNC NCBI

ClinVar Allele:

432549

ClinVar RCV:

RCV000506930

RCV001315219

ClinVar Variation:

439035

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310511.1:p.Arg518Leu	CA351962560 NM_001323582.1:c.1553G>T