Allele Registry

Canonical Allele Identifier: PA916048594

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000665732

ClinVar Variation:

550861

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Val437Leu	CA351608651 NM_001370658.1:c.1309G>C CA351608653 NM_001370658.1:c.1309G>T