Allele Registry

Canonical Allele Identifier: PA916048574

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000022000

RCV000493447

ClinVar Variation:

25075

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Cys404Tyr	CA278316 NM_001370658.1:c.1211G>A