Allele Registry

Canonical Allele Identifier: PA916048614

Gene: BTD HGNC NCBI

ClinVar Allele:

432548

ClinVar RCV:

RCV000505981

RCV001309054

ClinVar Variation:

439034

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Leu515Phe	CA351962544 NM_001370658.1:c.1543C>T