Allele Registry

Canonical Allele Identifier: PA093533

Gene: BTD HGNC NCBI

ClinVar Allele:

36372

ClinVar RCV:

RCV000185805

RCV003473119

ClinVar Variation:

25035

HGVS (amino-acid)	Matching Registered Transcripts
NP_000051.1:p.Asp228Tyr	CA278249 NM_000060.4:c.682G>T