Allele Registry

Canonical Allele Identifier: PA278253

Gene: BTD HGNC NCBI

ClinVar RCV:

RCV000021959

RCV000724643

ClinVar Variation:

38281

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Cys245Tyr	CA278252 NM_000060.4:c.734G>A