Allele Registry

Canonical Allele Identifier: PA2828445883

Gene: BTD HGNC NCBI

ClinVar Allele:

36357

ClinVar RCV:

RCV000021940

RCV000790752

ClinVar Variation:

25020

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Cys166Tyr	CA220327 NM_001370658.1:c.497G>A